Anophthalmia-esophageal atresia syndrome caused by anSOX2 gene deletion in monozygotic twin brothers with markedly discordant phenotypes
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Reference32 articles.
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1. CHD7 and SOX2 act in a common gene regulatory network during mammalian semicircular canal and cochlear development;Proceedings of the National Academy of Sciences;2024-02-26
2. Epigenetic reprogramming of a distal developmental enhancer cluster drivesSOX2overexpression in breast and lung adenocarcinoma;Nucleic Acids Research;2023-09-22
3. Prenatal diagnosis of Sex determining region Y -box transcription factor 2 anophthalmia syndrome caused by germline mosaicism using next-generation sequencing: A case report;International Journal of Reproductive BioMedicine (IJRM);2023-09-14
4. SOX2 pathogenic variants with normal eyes: Expanding the phenotypic spectrum;American Journal of Medical Genetics Part A;2023-05-10
5. Heterozygous mutations in SOX2 may cause idiopathic hypogonadotropic hypogonadism via dominant-negative mechanisms;JCI Insight;2023-02-08
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