Functional characterization of novel NR5A1 variants reveals multiple complex roles in disorders of sex development

Variants in the NR5A1 gene encoding SF1 have been described in a diverse spectrum of disorders of sex development (DSD). Recently, we reported the use of a targeted gene panel for DSD where we identified 15 individuals with a variant in NR5A1, nine of which are novel. Here, we examine the functional...

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Detalles Bibliográficos
Autores principales: Robevska, Gorjana, van den Bergen, Jocelyn A., Ohnesorg, Thomas, Eggers, Stefanie, Hanna, Chloe, Hersmus, Remko, Thompson, Elizabeth M., Baxendale, Anne, Verge, Charles F., Lafferty, Antony R., Marzuki, Nanis S., Santosa, Ardy, Listyasari, Nurin A., Riedl, Stefan, Warne, Garry, Looijenga, Leendert, Faradz, Sultana, Ayers, Katie L., Sinclair, Andrew H.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2017
Materias:
Research Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5765430/
https://www.ncbi.nlm.nih.gov/pubmed/29027299
http://dx.doi.org/10.1002/humu.23354

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5765430/
https://www.ncbi.nlm.nih.gov/pubmed/29027299
http://dx.doi.org/10.1002/humu.23354

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