Article
Structure-phenotype correlations of human CYP21A2 mutations in congenital adrenal hyperplasia.
Proceedings of the National Academy of Sciences of the United States of America - 12 Feb 2013
Haider Shozeb, Islam Barira, D'Atri Valentina, Sgobba Miriam, Poojari Chetan, Sun Li, Yuen Tony, Zaidi Mone, New Maria I
Abstract excerpt
Mutations in the cytochrome p450 (CYP)21A2 gene, which encodes the enzyme steroid 21-hydroxylase, cause the majority of cases in congenital adrenal hyperplasia, an autosomal recessive disorder. To date, more than 100 CYP21A2 mutations have been reported. These mutations can be associated either with severe salt-wasting or simple virilizing phenotypes or with milder nonclassical phenotypes. Not all CYP21A2...
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