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Genetics of Congenital Adrenal Hyperplasia
Congenital adrenal hyperplasia (CAH) refers to a group of autosomal recessive disorders due to single gene defects in the various enzymes required for cortisol biosynthesis. CAH represents a continuous phenotypic spectrum with over 95% of all cases caused by 21-hydroxylase deficiency. Genotyping is...
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| 出版年: | Best Pract Res Clin Endocrinol Metab |
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| 主要な著者: | , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
2009
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5576025/ https://ncbi.nlm.nih.gov/pubmed/19500762 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.beem.2008.10.014 |
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