Article
Cytochrome P450 oxidoreductase deficiency: identification and characterization of biallelic mutations and genotype-phenotype correlations in 35 Japanese patients.
The Journal of clinical endocrinology and metabolism - 1 May 2009
Fukami Maki, Nishimura Gen, Homma Keiko, Nagai Toshiro, Hanaki Keiichi, Uematsu Ayumi, Ishii Tomohiro, Numakura Chikahiko, Sawada Hirotake, Nakacho Mariko, Kowase Takanori, Motomura Katsuaki, Haruna Hidenori, Nakamura Mihoko, Ohishi Akira, Adachi Masanori, Tajima Toshihiro, Hasegawa Yukihiro, Hasegawa Tomonobu, Horikawa Reiko, Fujieda Kenji, Ogata Tsutomu
Abstract excerpt
CONTEXT: Cytochrome P450 oxidoreductase (POR) deficiency is a rare autosomal recessive disorder characterized by skeletal dysplasia, adrenal dysfunction, disorders of sex development (DSD), and maternal virilization during pregnancy. Although multiple studies have been performed for this conditio...
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