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

Autor: 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
Jazyk: English<br />Spanish; Castilian
Rok vydání: 2023
Předmět:
Zdroj: Advances in Laboratory Medicine, Vol 4, Iss 2, Pp 195-198 (2023)
Druh dokumentu: article
ISSN: 2628-491X
DOI: 10.1515/almed-2023-0018
Popis: 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.
Databáze: Directory of Open Access Journals