The p.R92W variant of NR5A1/Nr5a1 induces testicular development of 46,XX gonads in humans, but not in mice: phenotypic comparison of human patients and mutation-induced mice

NR5A1 is the key regulator of adrenal and gonadal development in both humans and mice. Recently, a missense substitution in human NR5A1, p.R92W, was shown to underlie gonadal dysgenesis in genetic males and testicular formation in genetic females. Here, we investigated the phenotypic effects of the...

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Detalles Bibliográficos
Autores principales: Miyado, Mami, Inui, Masafumi, Igarashi, Maki, Katoh-Fukui, Yuko, Takasawa, Kei, Hakoda, Akiko, Kanno, Junko, Kashimada, Kenichi, Miyado, Kenji, Tamano, Moe, Ogata, Tsutomu, Takada, Shuji, Fukami, Maki
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2016
Materias:
Letter to the Editor
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5101639/
https://www.ncbi.nlm.nih.gov/pubmed/27833742
http://dx.doi.org/10.1186/s13293-016-0114-6

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