Associated Papers
The Developmental Landscape of Children With Uveal Coloboma and Its Relationship With Clinical Phenotype and Genetics.
Brooks BP et al.
American Journal of Ophthalmology, 2026
Application of next-generation sequencing to determine mutations in candidate genes for congenital eye malformations in the Mexican indigenous population.
García-Montalvo IA et al.
Frontiers in Genetics, 2025
Comprehensive whole-genome sequence analyses provide insights into the genomic architecture of cerebral palsy.
Fehlings DL et al.
Nature Genetics, 2024
SOX2 pathogenic variants with normal eyes: Expanding the phenotypic spectrum.
Okoye O et al.
American Journal of Medical Genetics. Part A, 2023
Evaluation of somatic and/or germline mosaicism in congenital malformation of the eye.
Chesneau B et al.
European Journal of Human Genetics : Ejhg, 2023
First evidence of SOX2 mutations in Peters' anomaly: Lessons from molecular screening of 95 patients.
Chesneau B et al.
Clinical Genetics, 2022
Diagnostic performance of automated, streamlined, daily updated exome analysis in patients with neurodevelopmental delay.
Seo GH et al.
Molecular Medicine (cambridge, Mass.), 2022
Review of 37 patients with SOX2 pathogenic variants collected by the Anophthalmia/Microphthalmia Clinical Registry and DNA research study.
Amlie-Wolf L et al.
American Journal of Medical Genetics. Part A, 2022
Clinical diagnosis of presumed SOX2 gonadosomatic mosaicism.
Daich Varela M et al.
Ophthalmic Genetics, 2021
Anophthalmia including next-generation sequencing-based approaches.
Harding P et al.
European Journal of Human Genetics : Ejhg, 2020
Exome sequencing identifies a recurrent SOX2 deletion in a patient with gait ataxia and dystonia lacking major ocular malformations.
Pilz RA et al.
Journal of the Neurological Sciences, 2019
Mutations in VSX2, SOX2, and FOXE3 Identified in Patients with Micro-/Anophthalmia.
Habibi I et al.
Advances in Experimental Medicine and Biology, 2019
Extension of the mutational and clinical spectrum of SOX2 related disorders: Description of six new cases and a novel association with suprasellar teratoma.
Blackburn PR et al.
American Journal of Medical Genetics. Part A, 2018
A novel deletion mutation of the SOX2 gene in a child of Chinese origin with congenital bilateral anophthalmia and sensorineural hearing loss.
Zhang Y et al.
Journal of Genetics, 2018
SOX2: Not always eye malformations. Severe genital but no major ocular anomalies in a female patient with the recurrent c.70del20 variant.
Errichiello E et al.
European Journal of Medical Genetics, 2018
Syndromic microphthalmia-3 caused by a mutation on gene SOX2 in a Colombian male patient.
Ramirez-Botero AF et al.
Congenital Anomalies, 2016
Mutation spectrum and phenotypic variation in nine patients with SOX2 abnormalities.
Suzuki J et al.
Journal of Human Genetics, 2014
Clinical and mutation analysis of 51 probands with anophthalmia and/or severe microphthalmia from a single center.
Gerth-Kahlert C et al.
Molecular Genetics & Genomic Medicine, 2013
Parent-of-origin effects in SOX2 anophthalmia syndrome.
Osborne RJ et al.
Molecular Vision, 2011
SOX2 plays a critical role in the pituitary, forebrain, and eye during human embryonic development.
Kelberman D et al.
The Journal of Clinical Endocrinology and Metabolism, 2008
The role of SOX2 in hypogonadotropic hypogonadism.
Tziaferi V et al.
Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation, 2008
Germinal mosaicism and familial recurrence of a SOX2 mutation with highly variable phenotypic expression extending from AEG syndrome to absence of ocular involvement.
Chassaing N et al.
American Journal of Medical Genetics. Part A, 2007