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Late-onset X-linked adrenal hypoplasia (DAX-1, NR0B1): two new adult-onset cases from a single center

PURPOSE: DAX-1 (NR0B1) is an orphan nuclear receptor, which plays a critical role in development and regulation of the adrenal gland and hypothalamo–pituitary–gonadal axis. Mutations in NR0B1 lead to adrenal hypoplasia congenita (AHC), hypogonadotropic hypogonadism (HH) and azoospermia in men. Prese...

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Detalles Bibliográficos
Autores principales: Kyriakakis, Nikolaos, Shonibare, Tolulope, Kyaw-Tun, Julie, Lynch, Julie, Lagos, Carlos F., Achermann, John C., Murray, Robert D.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer US 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5606946/
https://www.ncbi.nlm.nih.gov/pubmed/28741070
http://dx.doi.org/10.1007/s11102-017-0822-x