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A recurrent p.Arg92Trp variant in steroidogenic factor-1 (NR5A1) can act as a molecular switch in human sex development
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...
Autores principales: | , , , , , , , , , , , , , , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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Oxford University Press
2016
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Materias: | |
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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por 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.
Publicado 2016
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Publicado 2016
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Online
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