SAT-LB049 Identification of a Rare Mutation in Congenital Adrenal Hyperplasia Patients in Costa Rica

Abstract: Congenital adrenal hyperplasia (CAH) is a group of enzymatic defects in cortisol biosynthesis. Steroid 21-hydroxylase deficiency accounts for greater than 90% of cases. Newborn screening has allowed for early detection of cases and currently, molecular analysis can identify the genotypes o...

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Detalles Bibliográficos
Autores principales: Umaña Calderón, Andrés, Acuña Navas, María José, Alvarado Romero, Danny, Jiménez Hernández, Mildred, Cavallo Aita, Fred
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Endocrine Society 2019
Materias:
Pediatric Endocrinology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6551931/
http://dx.doi.org/10.1210/js.2019-SAT-LB049

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