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Two cases of 17α-hydroxylase/17,20-lyase deficiency caused by the CYP17A1 mutation
17α-hydroxylase/17,20-lyase deficiency, caused by mutations in the cytochrome P450 family 17 subfamily A member 1 gene (CYP17A1), is an extremely rare form of congenital adrenal hyperplasia that is characterized by diverse phenotypes resulting from specific mutations. Here, we report 2 phenotypic fe...
Shranjeno v:
| izdano v: | Ann Pediatr Endocrinol Metab |
|---|---|
| Main Authors: | , , , , , , |
| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
Korean Society of Pediatric Endocrinology
2021
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| Teme: | |
| Online dostop: | https://ncbi.nlm.nih.gov/pmc/articles/PMC8026339/ https://ncbi.nlm.nih.gov/pubmed/33819959 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.6065/apem.2040184.092 |
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