Patient with adrenal insufficiency due to a de novo mutation in the NR0B1 gene

Patient with adrenal insufficiency due to a de novo mutation in the NR0B1 gene

Congenital X-linked adrenal hypoplasia is a rare disease with a known genetic basis characterized by adrenal insufficiency, hypogonadotropic hypogonadism, and a wide variety of clinical manifestations.

Bibliographic Details
Main Authors: Bravo Nieto Daniel, García Fernández Alba S., Díaz Troyano Noelia, Arnaiz Marina Giralt, Arias García Andrea, Fernández Álvarez Paula, Campos Martorell Ariadna, Ferrer Costa Roser, Clemente León María
Format: Article
Language:English
Published: De Gruyter 2023-03-01
Series:Advances in Laboratory Medicine
Subjects:
adrenal insufficiency
congenital adrenal hypoplasia
nr0b1
Online Access:https://doi.org/10.1515/almed-2023-0018

Internet

https://doi.org/10.1515/almed-2023-0018

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