SOX2 anophthalmia syndrome
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.30641/fullpdf
Reference6 articles.
1. Morphogenesis: Re: Clinical, natural history, and imaging information on patients included in reports
2. Klippel-Trenaunay syndrome
3. Mutations in SOX2 cause anophthalmia
4. A clinician's plea
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1. New mutations in GJA8 expand the phenotype to include total sclerocornea;Clinical Genetics;2017-09-08
2. Panel-based whole exome sequencing identifies novel mutations in microphthalmia and anophthalmia patients showing complex Mendelian inheritance patterns;Molecular Genetics & Genomic Medicine;2017-08-21
3. Syndromic microphthalmia-3 caused by a mutation on gene SOX2 in a Colombian male patient;Congenital Anomalies;2016-11
4. SOX2 primes the epigenetic landscape in neural precursors enabling proper gene activation during hippocampal neurogenesis;Proceedings of the National Academy of Sciences;2015-03-30
5. A Trans-Acting Protein Effect Causes Severe Eye Malformation in the Mp Mouse;PLoS Genetics;2013-12-12
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