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Title
Progress in molecular-genetic studies on congenital adrenal hyperplasia due to 11beta-hydroxylase deficiency.
Authors
Zhao, Li-Qiang; Han, Su; Tian, Hao-Ming
Abstract
11beta-hydroxylase deficiency is one of the main causes of congenital adrenal hyperplasia (CAH). It is caused by the mutation of the CYP11B1 gene that encodes the enzyme. Researches have shown that mutations of the CYP11B1 gene would result in activity decrease or inactivation of the enzyme in classical 11beta-hydroxylase deficiency.
Publication
World journal of pediatrics : WJP, 2008, Vol 4, Issue 2, p85