Nosology and classification of genetic skeletal disorders: 2010 revision.

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第一作者： Matthew L,Warman

第一单位： Orthopaedic Research Laboratories, Department of Orthopaedic Surgery, The Howard Hughes Medical Institute, Children's Hospital, Boston, Massachusetts, USA.

作者： Matthew L,Warman ^[1] ; Valerie,Cormier-Daire ; Christine,Hall ; Deborah,Krakow ; Ralph,Lachman ; Martine,LeMerrer ; Geert,Mortier ; Stefan,Mundlos ; Gen,Nishimura ; David L,Rimoin ; Stephen,Robertson ; Ravi,Savarirayan ; David,Sillence ; Juergen,Spranger ; Sheila,Unger ; Bernhard,Zabel ; Andrea,Superti-Furga

作者单位： Orthopaedic Research Laboratories, Department of Orthopaedic Surgery, The Howard Hughes Medical Institute, Children's Hospital, Boston, Massachusetts, USA. ^[1]

主题词骨疾病(Bone Diseases);遗传性疾病, 先天性(Genetic Diseases, Inborn);人类(Humans);突变(Mutation)

DOI 10.1002/ajmg.a.33909

PMID 21438135

发布时间 2023-04-25

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准确一般字义偏差语意偏离译文作用小提交