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  5. Clinical characterization and genetic analysis of TRPV4-related skeletal dysplasias in 4 Chinese fam

Clinical characterization and genetic analysis of TRPV4-related skeletal dysplasias in 4 Chinese fam

来源 :第七届国际骨质疏松及骨矿盐疾病学术会议 | 被引量 : 0次 | 上传用户：baliver110
【摘 要】
：
Background: TRPV4-associated skeletal dysplasias are,from mild to severe:Familial digital arthropathy-brachydactyly (FDAB), Autosomal dominant brachyolmia (ADBO),Spondylometaphyseal dysplasia, Kozlows
【作 者】
：
Yue Chi Qianqian Pang Lijun Xu Yan Jiang Mei Li Ou Wang Xiaoping Xing Xunwu Meng Xueying Zhou Weibo Xia 
【机 构】
：
Department of Endocrinology, Key Laboratory of Endocrinology, Ministry of Health, Peking Union Medic
【出 处】
：
第七届国际骨质疏松及骨矿盐疾病学术会议
【发表日期】
：
2014年3期
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Background: TRPV4-associated skeletal dysplasias are,from mild to severe:Familial digital arthropathy-brachydactyly (FDAB), Autosomal dominant brachyolmia (ADBO),Spondylometaphyseal dysplasia, Kozlowski type (SMDK),Spondyloepiphyseal dysplasia, Maroteaux type (SEDM),Metatropic dysplasia (MD) and Parastremmatic dysplasia.
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