Familial isolated 17,20-lyase deficiency in three siblings caused by a CYP17A1 mutation
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Summary: 17α-hydroxylase/17,20-lyase deficiency (17OHD) is a rare form of congenital adrenal hyperplasia, inherited in an autosomal recessive manner. The CYP17A1 gene on chromosome 10 encodes cytochrome P450c17, a single bifunct... ...
