Comprehensive Genetic Testing of CYP21A2: A Retrospective Analysis in Patients with Suspected Congenital Adrenal Hyperplasia

The most common form of congenital adrenal hyperplasia (CAH) results from a deficiency of the 21-hydroxylase enzyme (21-OHD), presenting with a broad spectrum of clinical phenotypes according to the CYP21A2 gene mutations. Of the 59 patients with suspected CAH, 62.7% presented a positive genetic res...

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Detalles Bibliográficos
Autores principales: Nan, Madalina Nicoleta, Roig, Rosa, Martínez, Susana, Rives, Jose, Urgell, Eulàlia, Espinós, Juan José, Tirado, Mireia, Carreras, Gemma, Aulinas, Anna, Webb, Susan M., Corcoy, Rosa, Blanco-Vaca, Francisco, Tondo, Mireia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8001222/
https://www.ncbi.nlm.nih.gov/pubmed/33809035
http://dx.doi.org/10.3390/jcm10061183

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