Article
Compound heterozygous mutations of cytochrome P450 oxidoreductase gene (POR) in two patients with Antley-Bixler syndrome.
American journal of medical genetics. Part A - 1 Aug 2004
Adachi Masanori, Tachibana Katsuhiko, Asakura Yumi, Yamamoto Toshiyuki, Hanaki Keiichi, Oka Akira
Abstract excerpt
Antley-Bixler syndrome (ABS) is characterized by skeletal defects including craniosynostosis and radiohumeral synostosis. Although mutations in the FGFR2 gene have been found in some patients called ABS, genetic heterogeneity of this syndrome has been proposed. We have previously reported three ABS patients with unique abnormalities in steroidogenesis (apparent decreased activity of 17alpha-hydroxylase,...
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