Hand-foot-genital syndrome due to a duplication variant in the GC-rich region of HOXA13.

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作者： Wenjin,Geng ^[1] ; Fuwei,Li ^[2] ; Ruoxuan,Zhang ^[3] ; Lijing,Cao ^[1] ; Xilong,Du ^[2] ; Weiyue,Gu ^[2] ; Meixian,Xu ^[4]

作者单位： Pediatric Intensive Care Unit, Hebei Children's Hospital, Shijiazhuang, China. ^[1] Beijing Chigene Translational Medicine Research Center Co., Ltd, Beijing, China. ^[2] School of Basic Medical Sciences, Hebei Medical University, Shijiazhuang, China. ^[3] Pediatric Intensive Care Unit, Hebei Children's Hospital, Shijiazhuang, China. Electronic address: 13833185617@163.com. ^[4]

关键词 GC-rich HOXA13 Hand-foot-genital syndrome Polyalanine expansion Whole-genome sequencing

主题词女(雌)性(Female);人类(Humans);婴儿, 新生(Infant, Newborn);足畸形, 先天性(Foot Deformities, Congenital);基因, 同源盒(Genes, Homeobox);手畸形, 先天性(Hand Deformities, Congenital);泌尿生殖系统畸形(Urogenital Abnormalities)

DOI 10.1016/j.ejmg.2023.104711

PMID 36702441

发布时间 2023-02-14

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