Clinical, endocrinological, and molecular features of four Korean cases of cytochrome P450 oxidoreductase deficiency

• Main Authors: Yena Lee (Author), Jin-Ho Choi (Author), Arum Oh (Author), Gu-Hwan Kim (Author), Sook-Hyun Park (Author), Jung Eun Moon (Author), Cheol Woo Ko (Author), Chong-Kun Cheon (Author), Han-Wook Yoo (Author)
• 格式: 圖書
• 出版: Korean Society of Pediatric Endocrinology, 2020-06-01T00:00:00Z.
• 主題: article
• 在線閱讀: Connect to this object online.

Purpose Cytochrome P450 oxidoreductase (POR) deficiency is a rare autosomal recessive disorder caused by mutations in the POR gene encoding an electron donor for all microsomal P450 enzymes. It is characterized by adrenal insufficiency, ambiguous genitalia, maternal virilization during pregnancy, an...