New insights into X‐linked adrenal hypoplasia congenita from a novel splice‐site variant of NR0B1 and adrenal CT images

BACKGROUND: X‐linked adrenal hypoplasia congenita (AHC) is a rare disorder, often manifesting as primary adrenal insufficiency (PAI) and hypogonadotropic hypogonadism (HH), and caused by variants of NR0B1, most of which are frame‐shifting variants, and few splice‐site variants. METHODS AND RESULTS:...

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Detalles Bibliográficos
Autores principales: Jiang, Yuqing, Peng, Huifang, Zhao, Rui, Chang, Yina, Liu, Jie, Fu, Liujun, Li, Liping, Ma, Yujin, Li, Wei, Jiang, Hongwei
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2023
Materias:
Clinical Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10265046/
https://www.ncbi.nlm.nih.gov/pubmed/37118935
http://dx.doi.org/10.1002/mgg3.2171

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