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Clinical and molecular review of atypical congenital adrenal hyperplasia
Congenital adrenal hyperplasia (CAH) is one of the most common inherited metabolic disorders. It comprises a group of autosomal recessive disorders caused by the mutations in the genes encoding for steroidogenic enzymes that involved cortisol synthesis. More than 90% of cases are caused by a defect...
保存先:
| 出版年: | Ann Pediatr Endocrinol Metab |
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| 第一著者: | |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
The Korean Society of Pediatric Endocrinology
2015
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4397267/ https://ncbi.nlm.nih.gov/pubmed/25883920 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.6065/apem.2015.20.1.1 |
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