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首页> Frontiers in endocrinology> Clinical characteristics and molecular etiology of partial 17α-hydroxylase deficiency diagnosed in 46,XX patients.

Clinical characteristics and molecular etiology of partial 17α-hydroxylase deficiency diagnosed in 46,XX patients.

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作者： Duoduo,Zhang ^[1] ; Fengxia,Yao ^[2] ; Min,Luo ^[1] ; Yanfang,Wang ^[1] ; Tiffany,Tian ^[3] ; Shan,Deng ^[1] ; Qinjie,Tian ^[1]

作者单位： Department of Obstetrics and Gynecology, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences, Beijing, China. ^[1] Clinical Research Laboratory, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences, Beijing, China. ^[2] Department of Biology, Emory College of Arts and Sciences, Atlanta, GA, United States. ^[3] Center for Rare Diseases Research, Chinese Academy of Medical Sciences, Beijing, China. ^[4]

关键词 CYP17A1 disorders of sex development fertility preservation partial 17α-hydroxylase deficiency (p17OHD)recurrent ovarian cyst

主题词女(雌)性(Female);人类(Humans);肾上腺增生, 先天性(Adrenal Hyperplasia, Congenital);激素类(Hormones);突变(Mutation);卵巢囊肿(Ovarian Cysts);回顾性研究(Retrospective Studies);类固醇17-α-羟化酶(Steroid 17-alpha-Hydroxylase)

DOI 10.3389/fendo.2022.978026

PMID 36589849

发布时间 2023-01-26

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