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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作者
Lijun Fan
Xiaoya Ren
Yanning Song
Chang Su
Junfen Fu
Chunxiu Gong
机构
[1] Beijing Children’s Hospital,Department of Endocrinology, Genetics, Metabolism
[2] Capital Medical University,Beijing Key Laboratory for Genetics of Birth Defects
[3] National Center for Children’s Health,Department of Endocrinology
[4] Beijing Children’s Hospital,undefined
[5] Capital Medical University,undefined
[6] National Center for Children’s Health,undefined
[7] Children’s Hospital of Zhejiang University School of Medicine,undefined
关键词
Antley-Bixler syndrome; Cytochrome P450 oxidoreductase deficiency; Disorder of sex development; Congenital adrenal hyperplasia; gene;
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