原发性厚皮性骨膜增生症的基因型与临床表型研究

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：malsway

【摘要】

：

研究目的原发性厚皮性骨膜增生症(Primary hypertrophic osteoarthropathy;PHO)是一种罕见的常染色体隐性遗传疾病,主要临床特征包括杵状指、厚皮及骨膜增生.我们之前的研究在国际上首先报告除HPGD突变外,PHO的另一个致病基因为SLCO2A1基因.本研究目的在于研究一组PHO患者,鉴定致病基因,并分析临床表型.

【作者】

：

张增章振林

【机构】

：

上海交通大学附属第六人民医院骨质疏松与骨病专科 200233

【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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原发性厚皮性骨膜增生症的基因型与临床表型研究

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