Open AccessNovel P450c17 Mutation H373D Causing Combined 17α-Hydroxylase/17,20-Lyase Deficiency
Author(s) -
Taninee Sahakitrungruang,
Meng Kian Tee,
Phyllis Speiser,
Walter L. Miller
Publication year - 2009
Publication title -
the journal of clinical endocrinology and metabolism
Language(s) - Uncategorized
Resource type - Journals
SCImago Journal Rank - 2.206
H-Index - 353
eISSN - 1945-7197
pISSN - 0021-972X
DOI - 10.1210/jc.2009-0645
Subject(s) - mutation , 21 hydroxylase , genetics , chemistry , biology , gene
Combined 17alpha-hydroxylase/17,20-lyase deficiency is a rare autosomal recessive form of congenital adrenal hyperplasia presenting with hypertension and sexual infantilism. This disorder is caused by defects in P450c17, encoded by the CYP17A1 gene.
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