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17α-hydroxylase/17,20-lyase deficiency in congenital adrenal hyperplasia: A case report
Congenital adrenal hyperplasia (CAH) is a rare autosomal recessive disorder caused by mutations in the cytochrome P450 family 17 subfamily A member 1 (CYP17A1) gene located on chromosome 10q24.3, which leads to a deficiency in 17α-hydroxylase/17,20-lyase. The disorder is characterized by low blood l...
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| Udgivet i: | Mol Med Rep |
|---|---|
| Main Authors: | , , , , |
| Format: | Artigo |
| Sprog: | Inglês |
| Udgivet: |
D.A. Spandidos
2017
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| Fag: | |
| Online adgang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5355729/ https://ncbi.nlm.nih.gov/pubmed/27959413 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3892/mmr.2016.6029 |
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