Article
Cytochrome P450 oxidoreductase gene mutations and Antley-Bixler syndrome with abnormal genitalia and/or impaired steroidogenesis: molecular and clinical studies in 10 patients.
The Journal of clinical endocrinology and metabolism - 1 Jan 2005
Fukami Maki, Horikawa Reiko, Nagai Toshiro, Tanaka Toshiaki, Naiki Yasuhiro, Sato Naoko, Okuyama Torayuki, Nakai Hideo, Soneda Shun, Tachibana Katsuhiko, Matsuo Nobutake, Sato Seiji, Homma Keiko, Nishimura Gen, Hasegawa Tomonobu, Ogata Tsutomu
Abstract excerpt
We report on molecular and clinical findings in 10 Japanese patients (four males and six females) from eight families (two pairs of siblings and six isolated cases) with Antley-Bixler syndrome accompanied by abnormal genitalia and/or impaired steroidogenesis. Direct sequencing was performed for all the 15 exons of cytochrome P450 oxidoreductase gene (POR), showing two missense mutations (R457H and Y578C), a 24-bp...
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