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Pitfalls in molecular diagnosis of 21-hydroxylase deficiency in congenital adrenal hyperplasia
Congenital adrenal hyperplasia (CAH) is a putative error of metabolism with autosomal recessive heredity pattern. The main manifestations of classic form of CAH are salt-wasting, dehydration and simple virilization in both sexes and ambiguous genitalia in female gender. 21-hyroxylase (CYP21A2) impai...
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| 發表在: | Adv Biomed Res |
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| Main Authors: | , , , , |
| 格式: | Artigo |
| 語言: | Inglês |
| 出版: |
Medknow Publications & Media Pvt Ltd
2015
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| 主題: | |
| 在線閱讀: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4617158/ https://ncbi.nlm.nih.gov/pubmed/26605228 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4103/2277-9175.164009 |
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