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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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| Publicado no: | J Endocr Soc |
|---|---|
| Main Authors: | , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Endocrine Society
2019
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6551931/ https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/js.2019-SAT-LB049 |
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