status for family members; it is not meant to address all personal, cultural, or Genet. i told him i miss him and he said aww; la porosidad es una propiedad extensiva o intensiva References Schneider A, Bardakjian TM, Zhou J, Hughes N, Keep R, Dorsainville D, Kherani Errichiello E, Gorgone C, Giuliano L, Iadarola B, Cosentino E, Rossato M, Kurtas NE, Delledonne M, Mattina T, Zuffardi O. SOX2: Not always eye malformations. Sox2 is involved in crystallin regulation in murine [ 22] and avian models [ 23] and humans, and SOX2 mutations cause microphthalmia and cataracts [ 24, 25 ]. The mutation of the sox2 gene causes sox2 Anophthalmia syndrome. 1. Recommended Surveillance for Individuals with SOX2 Disorder. Br J Ophthalmol. Reference to "pathogenic variants" in this section is understood to include any likely pathogenic variants. While most centers would consider use of prenatal testing to be a personal decision, discussion of these issues may be helpful. Bilateral anophthalmia and/or microphthalmia. Prostheses: Consider optically clear expanders to stimulate growth of the orbit & periorbital tissues. Contrary to popular belief, AAC devices do not hinder verbal development of speech, but rather support optimal speech and language development. Hagstrom SA et al: 20126410: 2010: SOX2 is an oncogene activated by recurrent 3q26.3 amplifications in human lung squamous cell carcinomas. most nfl players by state per capita; press back chairs history; how to cut rubber backed carpet tiles; cape verdean tuna recipes. An AAC evaluation can be completed by a speech-language pathologist who has expertise in the area. [updated 2020 Jul 30]. Both the globe (human eye) and the ocular tissue are missing from the orbit. Families with limited income and resources may also qualify for supplemental security income (SSI) for their child with a disability. Abnormal development of these structures causes the signs and symptoms of SOX2 anophthalmia syndrome. U.S. Department of Health and Human Services. The eyes are often absent or severely underdeveloped (anophthalmia), or they may be abnormally small (microphthalmia). genomic testing, which does not require the clinician to determine which gene is likely involved, is an option when SOX2 disorder is not an easily achievable diagnosis. A 504 plan (Section 504: a US federal statute that prohibits discrimination based on disability) can be considered for those who require accommodations or modifications such as front-of-class seating, assistive technology devices, classroom scribes, extra time between classes, modified assignments, and enlarged text. Treatment of manifestations: Treatment usually involves a multidisciplinary team including as needed an experienced pediatric ophthalmologist, ophthalmo-plastic surgeon (for children with anophthalmia and/or extreme microphthalmia), and early educational intervention through community vision services and/or school district; educational support for school-age children; pediatric endocrinologist; pediatric neurologist; and physical therapist and occupational therapist. SOX2 @ The Human Genetics Unit Edinburgh U.K. Gene-targeted deletion/duplication analysis, ~24% (~21% that could also be resolved by CMA & ~3% that are below the limit of detection by CMA), Bilateral microphthalmia &/or anophthalmia, Bilateral anophthalmia, optic disc aplasia/hypoplasia, Bilateral microphthalmia, coloboma, cataract, Unilateral or bilateral microphthalmia &/or anophthalmia. . Affected families are of Middle Eastern ethnicity. Microphthalmia, anophthalmia and coloboma (MAC) are a group of birth eye conditions that affect 3 to 30 per 100,000 newborns. F, Katowitz J, Schimmenti LA, Hummel M, Fitzpatrick DR, Young TL. 15 A family history of anophthalmia was present in . The phenotypic spectrum of SOX2 disorder includes anophthalmia and/or microphthalmia, brain malformations, developmental delay/ intellectual disability, esophageal atresia, hypogonadotropic hypogonadism (manifest as cryptorchidism and micropenis in males, gonadal dysgenesis infrequently in females, and delayed puberty in both sexes), pituitary hypoplasia, postnatal growth delay, hypotonia, seizures, and spastic or dystonic movements. MRC Institute of Genetics and Molecular Medicine Permission is Optic fissure closure defects have been reported but are not a common feature. sox2 anophthalmia syndrome life expectancy Genetic Testing Registry: Anophthalmia/microphthalmia-esophageal atresia syndrome, National Organization for Rare Disorders (NORD). A short animation explaining MAC. Absence of a known family history does not preclude the diagnosis. BMP4 loss-of-function mutations in developmental eye disorders including SHORT syndrome. SOX2 | Hereditary Ocular Diseases - University Of Arizona SOX2 encodes the transcription factor SOX2 (317 amino acids) which has an HMG DNA-binding domain (amino acids 40-111), a partner-binding region, and a C-terminal transactivation region. Williamson KA, Hall HN, Owen LJ, Livesey BJ, Hanson IM, Adams GGW, Bodek S, Calvas P, Castle B, Clarke M, Deng AT, Edery P, Fisher R, Gillessen-Kaesbach G, Heon E, Hurst J, Josifova D, Lorenz B, McKee S, Meire F, Moore AT, Parker M, Reiff CM, Self J, Tobias ES, Verheij JBGM, Willems M, Williams D, van Heyningen V, Marsh JA, FitzPatrick DR. Recurrent heterozygous PAX6 missense variants cause severe bilateral microphthalmia via predictable effects on DNA-protein interaction. Mechanism of disease causation. The diagnosis of SOX2 disorder is established in a proband in whom molecular genetic testing identifies either a heterozygous intragenic SOX2 pathogenic (or likely pathogenic) variant or a deletion of 3q26.33 involving SOX2. In . Schneider A, Young TL. However, there are treatments that include: Theres no way to completely eliminate your risk of microphthalmia and anophthalmia, but there are ways to make pregnancy safer: Theres no cure for microphthalmia or anophthalmia. MedlinePlus also links to health information from non-government Web sites. Gerth-Kahlert C, Williamson K, Ansari M, Rainger JK, Hingst V, Zimmermann T, Tech S, Guthoff RF, van Heyningen V, Fitzpatrick DR. Clinical and mutation analysis of 51 probands with anophthalmia and/or severe microphthalmia from a single center. Biology | Free Full-Text | Genetic Variants in Protein Tyrosine To date, 174 individuals from 157 families have been identified with SOX2 disorder [Williamson & FitzPatrick 2014, Gorman et al 2016, Dennert et al 2017, Blackburn et al 2018]. Less frequent variants, esp those that alter residues adjacent to Tyr160, are also assoc w/severe phenotype. People with SOX2 anophthalmia syndrome are usually born without eyeballs (anophthalmia), although some individuals have small eyes (microphthalmia). Ted's story - MACS - Microphthalmia, Anophthalmia and Coloboma Support They may also. Keywords: Anopthalmia; microphthalmia; other disorders; quality of life. football players born in milton keynes; ups aircraft mechanic test. hypogonadism. NAA10 polyadenylation signal variants cause syndromic microphthalmia. SOX2 anophthalmia syndrome is estimated to affect 1 in 250,000 individuals. The following descriptions are based on these key reports, together with all other published cases and the authors' unpublished data. Tziaferi V, Kelberman D, Dattani MT. Mihelec M, Abraham P, Gibson K, Krowka R, Susman R, Storen R, Chen Y, Donald J, Tam PP, Grigg JR, Flaherty M, Gole GA, Jamieson RV. GeneReviews is not responsible for the information provided by other Seizures were observed in 22 individuals. Anophthalmia/Microphthalmia (A/M) may affect one eye with the other eye being normal, or both eyes, resulting in blindness. Sox2 anophthalmia syndrome is an autosomal dominant inheritance. sox2 anophthalmia syndrome life expectancy. information on the nature, mode(s) of inheritance, and implications of genetic disorders to help them . Stark Z, Storen R, Bennetts B, Savarirayan R, Jamieson RV. Schneider A, Bardakjian T, Reis LM, Tyler RC, Semina EV. The N-terminal region is of unknown function and contains short polyglycine and polyalanine repeats. Surveillance: Routine follow up with specialists managing the vision, educational, endocrine, and neurologic manifestations. Ages 0-3 years. Two or more of these features need to be present for a clinical diagnosis only 30% of patients have all three. Variants may include small intragenic deletions/insertions and missense, nonsense, and splice site variants; typically, whole-exon or whole-gene deletions/duplications are not detected. Isolated hypogonadotropic hypogonadism with SOX2 mutation and anophthalmia/microphthalmia in offspring. silobration vendor application 2022 - laoiscivildefence.org Sex-determining region Y-box 2 (Sox2) anophthalmia syndrome follows an autosomal dominant inheritance pattern and results from a mutation in the Sox2 gene which prevents the associated protein production . Edinburgh, United Kingdom, Malformations of the ears, teeth, fingers, skeleton, or genitourinary system, Mild-to-severe ID or DD in ~60% of affected males, Incl best corrected visual acuity, assessment of refractive error, fundus exam. This gene provides instructions for making a protein that plays a critical role in the formation . SOX2 Anophthalmia Syndrome | Encyclopedia MDPI Select Features of SOX2 Disorder: Frequency of Human Phenotype Ontology (HPO) Terms. sox2 anophthalmia syndrome life expectancy golf lessons west seattle what race is tecna from winx club sox2 anophthalmia syndrome life expectancy 16 de junio de 2022 As a child enters the teen years, a transition plan should be discussed and incorporated in the IEP. Williamson KA, Yates TM, FitzPatrick DR. SOX2 Disorder. Assess for sensorineural & conductive hearing loss. Abstract Heterozygous, de novo, loss-of-function mutations in SOX2 have been shown to cause bilateral anophthalmia. The degree of visual impairment is usually severe and consistent with the degree of structural abnormality in the eye. Congenital anophthalmia is a developmental disorder in which the eye does not develop or is underdeveloped. What is the prognosis of a genetic condition? Williamson KA, Yates TM, FitzPatrick DR. SOX2 Disorder. The SOX2 protein regulates the activity of other genes, especially those that are important for normal development of the eyes. 2007 Nov;91(11):1471-6. doi: 10.1136/bjo.2007.117929. Developmental preschool is center based; for children too medically unstable to attend, home-based services are provided. Tziaferi V, Kelberman D, Dattani MT. About 10 percent to 15 percent of people with anophthalmia in both eyes have SOX2 anophthalmia syndrome. These children should be considered at risk for status dystonicus, which can be triggered by any major physiologic stress and can lead to protracted periods of hospitalization and critical care. It can also cause seizures, brain problems, and delayed growth. Cavallo L, Faienza MF, Fischetto R, Achermann JC, Martinez-Barbera JP, Rizzoti K, Identification of significant dysregulation of the hypothalamic-pituitary-adrenal axis is particularly important to ensure that appropriate glucocorticoid supplementation is provided during periods of physiologic stress. Both conditions are rare, and can cause vision loss or blindness. GeneReviews staff has selected the following disease-specific and/or umbrella See a healthcare provider before you get pregnant and work together so you can be as healthy as possible before and during your pregnancy. c/o Center for Developmental Medicine and Genetics, A cytogenetically visible deletion of 3q26.33 that either encompasses, Professor Veronica van Heyningen for continued helpful collaboration, MACS family support organization for their interest and support, 30 July 2020 (bp) Comprehensive update posted live, 31 July 2014 (me) Comprehensive update posted live, 25 August 2009 (me) Comprehensive update posted live, 7 March 2008 (cd) Revision: FISH analysis available clinically, 5 December 2007 (cd) Revision: deletion/duplication analysis available clinically. SOX2 anophthalmia syndrome - North Carolina State University Polyadenylation signal variants are assoc w/familial anophthalmia. How are genetic conditions treated or managed? ~50% of affected individuals had DD or autism. Sisodiya SM, Ragge NK, Cavalleri GL, Hever A, Lorenz B, Schneider A, Williamson KA, Stevens JM, Free SL, Thompson PJ, van Heyningen V, Fitzpatrick DR. Role of SOX2 mutations in human hippocampal malformations and epilepsy. Anophthalmia and microphthalmia | March of Dimes Community vision services through early intervention or school district, Recurrent variant specifically assoc w/status dystonicus [. how did edd gould get cancer. People with SOX2 anophthalmia syndrome are usually born without eyeballs (anophthalmia), although some individuals have small eyes (microphthalmia). of GeneReviews chapters for use in lab reports and clinic notes are a permitted Other names for microphthalmia include small eye syndrome and microphthalmos. Bilateral anophthalmia and/or microphthalmia, Unilateral anophthalmia or microphthalmia, Genital abnormalities. The majority of affected individuals have some evidence of hypothalamic-pituitary axis dysfunction when detailed measurement of growth hormone and gonadotropins is undertaken [Tziaferi et al 2008]. Its a question of managing these conditions and any other conditions that might occur with them. Causes Mutations in the SOX2 gene cause SOX2 anophthalmia syndrome. SOX2 eye defects are usually bilateral, severe, and apparent at birth or on routine prenatal ultrasound examination. When anophthalmia or microphthalmia is the only condition a baby has, it's called nonsyndromic or isolated. The life expectancy of people with Down syndrome increased dramatically between 1960 and 2007. Washington) are included with each copy; (ii) a link to the original material is provided Williamson KA, Hever AM, Rainger J, Rogers RC, Magee A, Fiedler Z, Keng WT, contact: ude.wu@tssamda. It is also possible that complete failure of optic vesicle formation results in anophthalmia without optic nerve formation. SOX2 anophthalmia syndrome is a rare disorder characterized by abnormal development of the eyes and other parts of the body. They also help with socket and face development and can help with cosmetic concerns. Microphthalmia-anophthalmia-coloboma (MAC) was used as an umbrella term for the spectrum of severe eye malformations in early publications describing SOX2 eye disorders. The features of this condition are present from birth. No phenotypes other than those discussed in this GeneReview are known to be associated with heterozygous pathogenic variants in SOX2. Microphthalmia, Syndromic . Here we provide a detailed description of the clinical features associated with SOX2 mutations in the five individuals with reported mutations and four newly identified cases (including the first reported SOX2 missense mutation). ED. In general, retina tissue that is present has some functional activity. Medical Genetics: Mosaicism - Lucile Packard Children's Hospital There are early intervention services to help your child learn and support groups to help your family and your child succeed. Specific recommendations regarding type of therapy can be made by a developmental pediatrician. MRI stands for magnetic resonance imaging. INTRODUCTION SOX2 anophthalmia syndrome is an autosomal "Anophthalmia is the absence of one or both eyes. Data are compiled from the following standard references: gene from Status dystonicus, hyperpyrexia, and acute kidney injury in a patient with SOX2-anophthalmia syndrome. Genes of Interest in the Differential Diagnosis of SOX2 Disorder. SOX2 disorder comprises a phenotypic spectrum that can include anophthalmia and/or microphthalmia, brain malformations, developmental delay/ intellectual disability, esophageal atresia, hypogonadotropic hypogonadism (manifest as cryptorchidism and micropenis in males, gonadal dysgenesis infrequently in females, and delayed puberty in both sexes), pituitary hypoplasia, postnatal growth delay, hypotonia, seizures, and spastic or dystonic movements. Zhou J, Kherani F, Bardakjian TM, Katowitz J, Hughes N, Schimmenti LA, Embryology, Eye Malformations Article - StatPearls Genes associated with ocular manifestations frequently observed in SOX2 disorder (with or without nonocular comorbidities) are summarized in Table 3. A/M is rare, but the exact incidence is unknown. Microphthalmia & Anophthalmia: Types, Symptoms & Treatment When the phenotypic findings suggest the diagnosis of SOX2 disorder, molecular genetic testing approaches can include single-gene testing or use of a multigene panel: Comprehensive No further modifications are allowed. Feb 19. in the pituitary, forebrain, and eye during human embryonic development. silobration vendor application 2022 Ma AS, Grigg JR, Ho G, Prokudin I, Farnsworth E, Holman K, Cheng A, Billson FA, Martin F, Fraser C, Mowat D, Smith J, Christodoulou J, Flaherty M, Bennetts B, Jamieson RV. IJMS | Free Full-Text | SOX2 and SOX21 in Lung Epithelial In the US, developmental preschool through the local public school district is recommended. Additionally, feeding difficulty or gastroesophageal reflux was observed in multiple individuals. Dennert N, Engels H, Cremer K, Becker J, Wohlleber E, Albrecht B, Ehret JK, Ldecke HJ, Suri M, Carignani G, Renieri A, Kukuk GM, Wieland T, Andrieux J, Strom TM, Wieczorek D, Dieux-Coslier A, Zink AM. Sex Dev. The role of SOX2 in hypogonadotropic As these features can be present in children without severe structural eye defects [Zenteno et al 2006, Dennert et al 2017], they are not restricted to individuals with the full AEG syndrome [Williamson et al 2006]. Gerth-Kahlert et al [2013], Chassaing et al [2014], Suzuki et al [2014], Mauri et al [2015], Zanolli et al [2020]. ethical issues that may arise or to substitute for consultation with a genetics Make sure you get prenatal care (care before birth) early and consistently. Spasticity, including diplegia, paraparesis, or quadriparesis was reported in 13 individuals. In: Adam MP, Everman DB, Mirzaa GM, Pagon RA, Wallace SE, 2008 Nov 1;146A(21):2794-8. doi: Once the causative genetic alteration has been identified in an affected family member (or a parent is known to have a structural chromosome rearrangement involving the 3q26.33 region), prenatal testing for a pregnancy at increased risk is possible and preimplantation genetic testing for SOX2 disorder may be possible, depending on the specific familial variant. According to some estimates, these conditions (anophthalmia and microphthalmia) affect about 1 in 5,200 to 1 in 10,000 infants born each year in the U.S. Molecular Genetic Testing Used in SOX2 Disorder. Disclaimer. Familial recurrence of SOX2 anophthalmia syndrome: Phenotypically This is consistent with the known expression of SOX2 in the endoderm and genital ridge during development of chick and mouse embryos. With the current widespread use of advanced molecular genetic testing, it is apparent that the clinical spectrum associated with SOX2 pathogenic variants includes anophthalmia and/or microphthalmia as well as phenotypes with minimal or absent ocular findings. The absence of this protein disrupts the activity of genes that are essential for the development of the eyes and other parts of the body. Molecular genetic testing approaches can include a combination of gene-targeted testing (single-gene testing, multigene panel, and chromosomal microarray analysis [CMA]) and comprehensive Dystonia and spasticity. This is an autosomal dominant disorder secondary to heterozygous mutations in the SOX2 gene (3q26.33). Anophthalmia is when a baby is born without one or both of their eyes. Contact a health care provider if you have questions about your health. Consider referral to urologist for cryptorchidism or other genital malformations. 2008 Mar 24;14:583-92. Prosthetic eyes: Prosthetic eyes are placed in empty eye sockets. Chromosomal microarray analysis (CMA) uses oligonucleotide or SNP arrays to detect genome-wide large deletions/duplications (including SOX2) that cannot be detected by sequence analysis. An oculoplastic surgeon is a surgeon who has special training with the eyes, the eye sockets and the bones that make them up. SOX2 plays a critical role Reis LM, Tyler RC, Schilter KF, Abdul-Rahman O, Innis JW, Kozel BA, Schneider AS, Bardakjian TM, Lose EJ, Martin DM, Broeckel U, Semina EV. Data and Statistics on Down Syndrome | CDC (PDF) SOX2 Syndrome: A Case with Typical Clinical Profile - ResearchGate Duplications encompassing SOX2, ranging from 40 kb to 104 Mb, do not appear to cause structural eye defects, but are associated with other features of SOX2 disorder: developmental delay, intellectual disability, motor delay, hypotonia, and gastroesophageal reflux. Occasionally hypospadias is observed. 2006 Jun 15;15(12):2030. If a parent has a balanced structural chromosome rearrangement involving the 3q26.33 region, the risk to sibs is increased. Additional services can help families work together to improve life for their child. Infancy, mid-childhood, then every 3-6 mos from age 8 yrs, Every 3-6 mos during childhood or w/any progression of symptoms or signs, or deteriorating function, Most common pathogenic variant; accounts for ~20% of all pathogenic variants [, Recurrent familial variant assoc w/broad range of ocular phenotypes [. Shah SP, Taylor AE, Sowden JC, Ragge NK, Russell-Eggitt I, Rahi JS, Gilbert CE, et al. An ophthalmologist is a medical doctor who is trained in diagnosing and treating eye conditions and vision conditions. Thalidomide treats cancer and some skin conditions. Microphthalmia and anophthalmia may happen along with other medical conditions that occur at birth, including issues with hands and feet malformation (like polydactyly), face and mouth malformation (like cleft lip and palate) and intellectual challenges. OMIM Entries for SOX2 Disorder (View All in OMIM). Johnston JJ, Williamson KA, Chou CM, Sapp JC, Ansari M, Chapman HM, Cooper DN, Dabir T, Dudley JN, Holt RJ, Ragge NK, Schffer AA, Sen SK, Slavotinek AM, FitzPatrick DR, Glaser TM, Stewart F, Black GC, Biesecker LG. Dis. It encompasses all individuals with a SOX2 pathogenic variant who should be evaluated for medically actionable manifestations across the entire phenotypic spectrum (regardless of clinical findings that prompted molecular genetic testing). Gene-targeted deletion/duplication testing will detect deletions ranging from a single exon to a whole gene; however, breakpoints of large deletions and/or deletion of adjacent genes (e.g., those described by Suzuki et al [2014]) may not be detected by these methods [Chassaing et al 2014]. While both eyes are usually affected in SOX2 anophthalmia syndrome, one eye may be more affected than the other. In males, micropenis and cryptorchidism (often a manifestation of congenital hypogonadotropic hypogonadism) are common. Heterozygous, de novo, loss-of-function mutations in SOX2 have been shown to cause bilateral anophthalmia. SOX2 anophthalmia syndrome: 12 new cases whenever the material is published elsewhere on the Web; and (iii) reproducers, Tracheoesophageal fistula was seen in the presence or absence of esophageal atresia. noncommercial research purposes only, provided that (i) credit for source (http://www.genereviews.org/) and copyright ( 1993-2023 University of Recurrence of SOX2 anophthalmia syndrome with gonosomal mosaicism in a phenotypically normal mother. affected daughters. If exome sequencing is not diagnostic, exome array (when clinically available) can detect copy number variants, such as (multi)exon deletions or duplications that may not be identified by exome sequencing. This syndrome causes a decrease in the production of sox2 protein which regulates the other gene's activities which bind to other regions of DNA. People with SOX2 anophthalmia syndrome are usually born without eyeballs (anophthalmia), although some individuals have small eyes ( microphthalmia ). If the genetic alteration identified in the proband is not identified in either parent, the following possibilities should be considered: The proband inherited a pathogenic variant from a parent with germline mosaicism. chromosome locus from Anophthalmia-esophageal atresia-genital abnormalities (AEG) syndrome was previously reported to be a distinct disorder, but is now known to be associated in some individuals with heterozygous pathogenic loss-of-function variants in SOX2 [Williamson et al 2006, Zenteno et al 2006]; thus, it appears that esophageal atresia with or without tracheoesophageal fistula is a feature of SOX2 disorder and not a separate condition. The remaining individuals have a wide spectrum of eye malformations including the following: Thirteen individuals with loss-of-function SOX2 variants had bilateral structurally normal eyes. A practical guide to the management of anophthalmia and - Nature Genital abnormalities. For a description of databases (Locus Specific, HGMD, ClinVar) to which links are provided, click Although normal eye development is possible in SOX2 disorder, all such individuals had extraocular defects. usta tennis court construction specifications / why is rebecca lowe hosting olympics / sox2 anophthalmia syndrome life expectancy. Referral to an early intervention program is recommended for access to occupational, physical, speech, and feeding therapy as well as infant mental health services, special educators, and sensory impairment specialists. genetic conditions. Faivre L, Williamson KA, Faber V, Laurent N, Grimaldi M, Thauvin-Robinet C, Durand C, Mugneret F, Gouyon JB, Bron A, Huet F, Hayward C. Heyningen Vv, Fitzpatrick DR. What are the different ways a genetic condition can be inherited? SOX2 disorder, caused by an intragenic SOX2 pathogenic variant or a deletion of 3q26.33 involving SOX2, is an autosomal dominant disorder. Mol Vis. A method for predictive engineering of a sample derived from a genetically optimized non-human donor suitable for xenotransplantation into a human having improved quality or perfo Fetal MRI. In 2007, on average, persons with Down syndrome lived to be about 47 years old. Ptosis in childhood: A clinical sign of several disorders: Case series reports and literature review. The most common genetic cause for anophthalmia is mutated SOX2gene. Q11.1 - Other anophthalmos - ICD List 2023 mutual life insurance companies list. The following information represents typical management recommendations for individuals with developmental delay/ intellectual disability in the United States; standard recommendations may vary from country to country. . Glasses or contacts. augmentative and alternative communication, GeneReviews Copyright Notice and Usage . SOX2 has been implicated in a substantial number (10-15%) of cases and in many other cases failure to develop the ocular lens often results in microphthalmia. Last reviewed by a Cleveland Clinic medical professional on 09/07/2022. Blackburn PR, Chacon-Camacho OF, Ortiz-Gonzlez XR, Reyes M, Lopez-Uriarte GA, Zarei S, Bhoj EJ, Perez-Solorzano S, Vaubel RA, Murphree MI, Nava J, Cortes-Gonzalez V, Parisi JE, Villanueva-Mendoza C, Tirado-Torres IG, Li D, Klee EW, Pichurin PN, Zenteno JC. To use the sharing features on this page, please enable JavaScript.

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sox2 anophthalmia syndrome life expectancy