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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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| Опубликовано в: : | Best Pract Res Clin Endocrinol Metab |
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| Главные авторы: | , , |
| Формат: | Artigo |
| Язык: | Inglês |
| Опубликовано: |
2009
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| Предметы: | |
| Online-ссылка: | 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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