Molecular diagnosis of patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency

BACKGROUND: Congenital adrenal hyperplasia (CAH) is an autosomal recessive group of diseases. 21-Hydroxylase deficiency (21OHD) accounts for between 95 and 99% of all CAH cases. OBJECTIVES: To characterize the genotype of patients clinically diagnosed with 21OHD and to identify the most frequent mut...

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Détails bibliographiques
Publié dans:BMC Endocr Disord
Auteurs principaux: Espinosa Reyes, Tania Mayvel, Collazo Mesa, Teresa, Lantigua Cruz, Paulina Arasely, Agramonte Machado, Adriana, Domínguez Alonso, Emma, Falhammar, Henrik
Format: Artigo
Langue:Inglês
Publié: BioMed Central 2020
Sujets:
Research Article
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC7653887/
https://ncbi.nlm.nih.gov/pubmed/33168061
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12902-020-00643-z
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