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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...

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Detalles Bibliográficos
Autores principales:	Arriba, María, Ezquieta, Begoña
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2022
Materias:	Endocrinology
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9001848/ https://www.ncbi.nlm.nih.gov/pubmed/35422767 http://dx.doi.org/10.3389/fendo.2022.834549

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