CYP21A2 mutations in pediatric patients with congenital adrenal hyperplasia in Costa Rica

CYP21A2 mutations in pediatric patients with congenital adrenal hyperplasia in Costa Rica

Steroid 21-hydroxylase deficiency accounts for 95% of congenital adrenal hyperplasia (CAH) cases. Newborn screening has allowed for early detection of the disease, and currently, molecular analysis can identify the genotypes of these patients. Phenotype-genotype correlation has been well described i...

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Bibliographic Details
Main Authors: Andrés Umaña-Calderón, María José Acuña-Navas, Danny Alvarado, Mildred Jiménez, Fred Cavallo-Aita
Format: Article
Language:English
Published: Elsevier 2021-06-01
Series:Molecular Genetics and Metabolism Reports
Subjects:
Congenital adrenal hyperplasia
21-hydroxylase
CYP21A2
c.292+5G>A
IVS2+5G>A
Online Access:http://www.sciencedirect.com/science/article/pii/S2214426921000227

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http://www.sciencedirect.com/science/article/pii/S2214426921000227

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