Identification and Analysis of a Novel NR0B1 Mutation in Late-Onset Adrenal Hypoplasia Congenita and Hypogonadism

OBJECTIVE: X-linked adrenal hypoplasia congenita (AHC) is a rare disorder characterized by primary adrenal insufficiency and hypogonadotropic hypogonadism (HHG) caused by mutations of the NR0B1/DAX1 gene. We aimed to search for the presence of any NR0B1/DAX1 gene mutations in a referred patient and...

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Detalles Bibliográficos
Autores principales: Hasegawa, Yutaka, Takahashi, Yoshihiko, Kezuka, Yuichiro, Obara, Wataru, Kato, Yoichiro, Tamura, Shukuko, Onodera, Ken, Segawa, Toshie, Oda, Tomoyasu, Sato, Marino, Nata, Koji, Nonaka, Takamasa, Ishigaki, Yasushi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2020
Materias:
Clinical Research Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7757432/
https://www.ncbi.nlm.nih.gov/pubmed/33381670
http://dx.doi.org/10.1210/jendso/bvaa176

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7757432/
https://www.ncbi.nlm.nih.gov/pubmed/33381670
http://dx.doi.org/10.1210/jendso/bvaa176

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