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《中华医学会第七次全国骨质疏松和骨矿盐疾病学术会议论文汇编》2013年
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Progressive diaphyseal dysplasia:case report

Hui Zheng  Chong Shao  Jin-wei He  Wen-zhen Fu  Zhen-lin Zhang  
【摘要】:正Objective Progressive diaphyseal dysplasia(PDD) or Camurati-Engelmann disease is a rare autosomal dominant progressive diaphyseal dysplasia caused by mutations in the transforming growth factor-β1(TGFβ1) gene.The objective of this study was to characterize the clinical manifestations and features of PDD and identify the mutation of the causative gene in a Chinese family with PDD. Method We investigated a non-consanguineous Chinese family in which an 18-year-old male,his mother and grandmother were affected with PDD.Altogether,203 persons,including the proband,his

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