Associated Papers
Novel SOX2 mutation in autosomal dominant cataract-microcornea syndrome.
Lin ZB et al.
Bmc Ophthalmology, 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
Tenuous transcriptional threshold of human sex determination. II. SRY exploits water-mediated clamp at the edge of ambiguity.
Racca JD et al.
Frontiers in Endocrinology, 2022
36568077 (PubMed )
Supplement: DataSheet_1.pdf
Functional analysis of SOX10 mutations identified in Chinese patients with Kallmann syndrome.
Dai W et al.
Gene, 2019
A novel mutation in SOX2 causes hypogonadotropic hypogonadism with mild ocular malformation.
Takagi M et al.
Hormone Research in Paediatrics, 2014
Novel SOX2 mutations and genotype-phenotype correlation in anophthalmia and microphthalmia.
Schneider A et al.
American Journal of Medical Genetics. Part A, 2009
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