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Article

NR5A1gene variants repress the ovarian-specific WNT signaling pathway in 46,XX disorders of sex development patients

23 Oct 2018

Abstract excerpt

Several recent reports have described a missense variant in the gene NR5A1 (c.274C>T; p.Arg92Trp) in a significant number of 46,XX ovotesticular or testicular disorders of sex development (DSDs) cases. The affected residue falls within the DNA-binding domain of the NR5A1 protein, however the exact mechanism by which it causes testicular development in 46,XX individuals remains unclear. We have screened a cohort...

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Share to Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 30350900
DOI: 10.1002/humu.23672

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