A novel NR5A1 variant in an infant with elevated testosterone from an Australasian cohort of 46,XY patients with disorders of sex development

BACKGROUND: NR5A1 loss-of-function mutations are increasingly found to be the cause of 46,XY disorders of sex development (DSD). OBJECTIVE: To determine the presence of NR5A1 mutations in an Australasian cohort of 17 46,XY DSD patients with presumed androgen insensitivity syndrome (AIS) who were neg...

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Detalles Bibliográficos
Autores principales: Wu, Joyce Y, McGown, Ivan N, Lin, Lin, Achermann, John C, Harris, Mark, Cowley, David M, Aftimos, Salim, Neville, Kristen A, Choong, Catherine S, Cotterill, Andrew M
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Blackwell Publishing Ltd 2013
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3613751/
https://www.ncbi.nlm.nih.gov/pubmed/22909003
http://dx.doi.org/10.1111/cen.12012

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