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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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| Опубликовано в: : | Mol Genet Metab Rep |
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| Главные авторы: | , , , , |
| Формат: | Artigo |
| Язык: | Inglês |
| Опубликовано: |
Elsevier
2021
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| Предметы: | |
| Online-ссылка: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7875833/ https://ncbi.nlm.nih.gov/pubmed/33604243 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgmr.2021.100728 |
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