Comparative analysis of the two extremes of <i>FLNB</i>-mutated autosomal dominant disease spectrum: from clinical phenotypes to cellular and molecular findings.

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作者： Qiming,Xu ^[1] ; Nan,Wu ^[1] ; Lijia,Cui ^[2] ; Mao,Lin ^[3] ; D,Thirumal Kumar ^[4] ; C,George Priya Doss ^[1] ; Zhihong,Wu ^[5] ; Jianxiong,Shen ^[5] ; Xiangjian,Song ^[6] ; Guixing,Qiu ^[2]

作者单位： Department of Orthopedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences Beijing, China. ^[1] Beijing Key Laboratory for Genetic Research of Skeletal Deformity Beijing, China. ^[2] Medical Research Center of Orthopedics, Chinese Academy of Medical Sciences Beijing, China. ^[3] Department of Endocrinology, Peking Union Medical College Hospital Beijing, China. ^[4] Department of Integrative Biology, Vellore Institute of Technology Vellore, India. ^[5] Department of Central Laboratory, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences Beijing, China. ^[6] Department of Pediatric Orthopedics, Zhengzhou Orthopedic Hospital Zhengzhou, Henan, China. ^[7]

关键词 ATDC5 cell FLNB apoptosis boomerang dysplasia larsen syndrome

PMID 29887954

发布时间 2020-09-30

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