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The impact of CYP21A2 (P30L/I172N) genotype on female fertility in one family
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 in newbo...
| Autores principales: | , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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BioMed Central
2019
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6582564/ https://www.ncbi.nlm.nih.gov/pubmed/31217034 http://dx.doi.org/10.1186/s40001-019-0379-4 |