Molecular Diagnosis of Steroid 21-Hydroxylase Deficiency: A Practical Approach

Adrenal insufficiency in paediatric patients is mostly due to congenital adrenal hyperplasia (CAH), a severe monogenic disease caused by steroid 21-hydroxylase deficiency (21-OHD, encoded by the CYP21A2 gene) in 95% of cases. CYP21A2 genotyping requires careful analyses that guaranty gene-specific P...

Descripció completa

Dades bibliogràfiques

Autors principals:	María Arriba, Begoña Ezquieta
Format:	Artigo
Idioma:	Inglês
Publicat:	Frontiers Media S.A. 2022-03-01
Col·lecció:	Frontiers in Endocrinology
Matèries:	ccongenital adrenal hyperplasia (CAH) 21-hydroxylase deficiency CYP21A2 gene classical forms of congenital adrenal hyperplasia non-classical forms of congenital adrenal hyperplasia molecular diagnosis
Accés en línia:	https://www.frontiersin.org/articles/10.3389/fendo.2022.834549/full
Etiquetes:	Afegir etiqueta Sense etiquetes, Sigues el primer a etiquetar aquest registre!