The impact of CYP21A2 (P30L/I172N) genotype on female fertility in one family
Abstract Background The simple virilizing (SV) form of congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder usually caused by steroid 21-hydroxylase deficiency due to I172N missense mutation at the CYP21A2 gene. Clinical presentation encompasses virilization of external genitalia...
| Main Authors: | , , |
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| Format: | Article |
| Language: | English |
| Published: |
BMC
2019-06-01
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| Series: | European Journal of Medical Research |
| Subjects: | |
| Online Access: | http://link.springer.com/article/10.1186/s40001-019-0379-4 |