NR5A1 is a novel disease gene for 46,XX testicular and ovotesticular disorders of sex development

PURPOSE: We aimed to identify the genetic cause in a cohort of 11 unrelated cases and two sisters with 46,XX SRY-negative (ovo)testicular disorders of sex development (DSD). METHODS: Whole-exome sequencing (n = 9), targeted resequencing (n = 4), and haplotyping were performed. Immunohistochemistry o...

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Spremljeno u:
Bibliografski detalji
Izdano u:Genet Med
Glavni autori: Baetens, Dorien, Stoop, Hans, Peelman, Frank, Todeschini, Anne-Laure, Rosseel, Toon, Coppieters, Frauke, Veitia, Reiner A., Looijenga, Leendert H.J., De Baere, Elfride, Cools, Martine
Format: Artigo
Jezik:Inglês
Izdano: Nature Publishing Group 2017
Teme:
Original Research Article
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC5392598/
https://ncbi.nlm.nih.gov/pubmed/27490115
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/gim.2016.118
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