Identification and Functional Analysis of Six DAX1 Mutations in Patients With X-Linked Adrenal Hypoplasia Congenita

CONTEXT: DAX1 (NR0B1) mutations cause X-linked adrenal hypoplasia congenita (AHC) and hypogonadotropic hypogonadism (HH) in affected male patients. Affected individuals typically present with early-onset adrenal insufficiency and develop HH during puberty. Rare cases can present with late-onset adre...

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Publicado en:J Endocr Soc
Autores principales: Suthiworachai, Chanisara, Tammachote, Rachaneekorn, Srichomthong, Chalurmpon, Ittiwut, Rungnapa, Suphapeetiporn, Kanya, Sahakitrungruang, Taninee, Shotelersuk, Vorasuk
Formato: Artigo
Lenguaje:Inglês
Publicado: Endocrine Society 2018
Materias:
Clinical Research Articles
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC6316980/
https://ncbi.nlm.nih.gov/pubmed/30620004
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/js.2018-00270
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