Whole exome sequencing and functional characterization increase diagnostic yield in siblings with a 46, XY difference of sexual development (DSD).

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第一作者： Sofia E,Luna

第一单位： Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine and St. Louis Children's Hospital, St. Louis, MO, USA.

作者： Sofia E,Luna ^[1] ; Daniel J,Wegner ^[1] ; Sarah,Gale ^[2] ; Ping,Yang ^[1] ; Abby,Hollander ^[1] ; Lori,St Dennis-Feezle ^[3] ; Zeina M,Nabhan ^[3] ; Daniel S,Ory ^[2] ; F Sessions,Cole ^[1] ; Jennifer A,Wambach ^[4]

作者单位： Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine and St. Louis Children's Hospital, St. Louis, MO, USA. ^[1] Department of Medicine, Washington University School of Medicine, St. Louis, MO, USA. ^[2] Department of Pediatrics, Indiana University School of Medicine and Riley Children's Hospital, Indianapolis, IN, USA. ^[3] Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine and St. Louis Children's Hospital, St. Louis, MO, USA. Electronic address: wambachj@wustl.edu. ^[4]

关键词 17β-hydroxysteroid dehydrogenase 3 Androstenedione Differences of sexual development HSD17B3 Testosterone

主题词 17-羟甾类脱氢酶类(17-Hydroxysteroid Dehydrogenases);雄烯二酮(Androstenedione);儿童, 学龄前(Child, Preschool);HEK293细胞(HEK293 Cells);人类(Humans);男(雄)性(Male);睾酮(Testosterone)

DOI 10.1016/j.jsbmb.2021.105908

PMID 33984517

发布时间 2022-12-07

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