Novel COL2A1 mutations causing spondyloepiphyseal dysplasia congenita in three unrelated Chinese families

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• 作者：Limin Liu ; QianQian Pang ; Yan Jiang ; Mei Li ; Ou Wang ; Weibo Xia
• 关键词：Spondyloepiphyseal dysplasia congenita (SEDC) ; COL2A1 ; Mutation
• 刊名：European Spine Journal
• 出版年：2016
• 出版时间：September 2016
• 年：2016
• 卷：25
• 期：9
• 页码：2967-2974
• 全文大小：6,024 KB
• 刊物类别：Medicine
• 刊物主题：Medicine & Public Health
  Surgical Orthopedics
  Neurosurgery
  
• 出版者：Springer Berlin / Heidelberg
• ISSN：1432-0932
• 卷排序：25

文摘

PurposeTo present three identified novel COL2A1 mutations causing spondyloepiphyseal dysplasia congenita (SEDC) in three unrelated Chinese families, and perform analysis regarding the clinical and genetic features of SEDC in the Chinese population through assessment of the literature.