Novel phenotypes and genotypes in Antley-Bixler syndrome caused by cytochrome P450 oxidoreductase deficiency: based on the first cohort of Chinese children.

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第一作者： Lijun,Fan

第一单位： Department of Endocrinology, Genetics, Metabolism, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, 56# Nan Lishi Rd, West District, Beijing, 100045, China.;Beijing Key Laboratory for Genetics of Birth Defects, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, 56# Nan Lishi Rd, West District, Beijing, 100045, China.

作者： Lijun,Fan ^[1] ; Xiaoya,Ren ^[1] ; Yanning,Song ^[1] ; Chang,Su ^[1] ; Junfen,Fu ^[2] ; Chunxiu,Gong ^[3]

作者单位： Department of Endocrinology, Genetics, Metabolism, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, 56# Nan Lishi Rd, West District, Beijing, 100045, China.;Beijing Key Laboratory for Genetics of Birth Defects, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, 56# Nan Lishi Rd, West District, Beijing, 100045, China. ^[1] Department of Endocrinology, Children's Hospital of Zhejiang University School of Medicine, Hangzhou, 310051, China. ^[2] Department of Endocrinology, Genetics, Metabolism, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, 56# Nan Lishi Rd, West District, Beijing, 100045, China. chunxiugong@sina.com.;Beijing Key Laboratory for Genetics of Birth Defects, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, 56# Nan Lishi Rd, West District, Beijing, 100045, China. chunxiugong@sina.com. ^[3]

关键词 Antley-Bixler syndrome Congenital adrenal hyperplasia Cytochrome P450 oxidoreductase deficiency Disorder of sex development POR gene