A recurrent p.Arg92Trp variant in steroidogenic factor-1 (NR5A1) can act as a molecular switch in human sex development

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Cell lineages of the early human gonad commit to one of the two mutually antagonistic organogenetic fates, the testis or the ovary. Some individuals with a 46,XX karyotype develop testes or ovotestes (testicular or ovotesticular disorder of sex development; TDSD/OTDSD), due to the presence of the te...

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Detalles Bibliográficos
Autores principales: Bashamboo, Anu, Donohoue, Patricia A., Vilain, Eric, Rojo, Sandra, Calvel, Pierre, Seneviratne, Sumudu N., Buonocore, Federica, Barseghyan, Hayk, Bingham, Nathan, Rosenfeld, Jill A., Mulukutla, Surya Narayan, Jain, Mahim, Burrage, Lindsay, Dhar, Shweta, Balasubramanyam, Ashok, Lee, Brendan, Dumargne, Marie-Charlotte, Eozenou, Caroline, Suntharalingham, Jenifer P., de Silva, KSH, Lin, Lin, Bignon-Topalovic, Joelle, Poulat, Francis, Lagos, Carlos F., McElreavey, Ken, Achermann, John C.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2016
Materias:
Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5179941/
https://www.ncbi.nlm.nih.gov/pubmed/27378692
http://dx.doi.org/10.1093/hmg/ddw186

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