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首页> Clinical dysmorphology> A novel Ser40Trp variant in IFITM5 in a family with osteogenesis imperfecta and review of the literature.

A novel Ser40Trp variant in IFITM5 in a family with osteogenesis imperfecta and review of the literature.

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第一作者： Jiin Ying,Lim

第一单位： Department of Paediatrics, KK Women's and Children's Hospital.

作者： Jiin Ying,Lim ^[1] ; Neha Singh,Bhatia ^[1] ; Rashida Farhad,Vasanwala ^[2] ; Pui Ling,Chay ^[3] ; Kevin Boon Leong,Lim ^[1] ; Poh Choo,Khoo ^[2] ; Ulrike,Schwarze ^[4] ; Saumya Shekhar,Jamuar ^[5]

作者单位： Department of Paediatrics, KK Women's and Children's Hospital. ^[1] Paediatric Academic Medical Programme, Duke-NUS Medical School. ^[2] Division of Genetics, Children's Hospital at Montefiore, Albert Einstein College of Medicine, Bronx, New York, USA. ^[3] Dental Service. ^[4] Department of Orthopedic Surgery. ^[5] Department of Neonatology, KK Women's and Children's Hospital, Singapore, Singapore. ^[6] Center for Precision Diagnostics, University of Washington, Seattle, Washington, USA. ^[7] Institute of Precision Medicine, SingHealth Duke-NUS Medical School, Singapore, Singapore. ^[8]

主题词骨和骨组织(Bone and Bones);儿童(Child);胶原Ⅰ型(Collagen Type I);家庭(Family);女(雌)性(Female);杂合子(Heterozygote);人类(Humans);膜蛋白质类(Membrane Proteins);突变(Mutation);成骨不全(Osteogenesis Imperfecta);系谱(Pedigree);表型(Phenotype)

DOI 10.1097/MCD.0000000000000279

PMID 30985308

发布时间 2019-12-17

翻译满意度评价：

准确一般字义偏差语意偏离译文作用小提交

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Clinical dysmorphology

Clinical dysmorphology

2019年28卷3期

120-125页

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