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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Detalles Bibliográficos
Autores principales: Umaña-Calderón, Andrés, Acuña-Navas, María José, Alvarado, Danny, Jiménez, Mildred, Cavallo-Aita, Fred
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2021
Materias:
Research Paper
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7875833/
https://www.ncbi.nlm.nih.gov/pubmed/33604243
http://dx.doi.org/10.1016/j.ymgmr.2021.100728

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