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SLCO2A1基因异常导致的原发性肥厚性骨关节病同家系二例 被引量:1

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摘要 例1先证者,男,25岁,汉族,于2017年10月入院,14岁开始出现双手指、足趾末端及双小腿增粗,伴头面部皮肤增厚、皱褶加深、多油、多汗,伴膝关节肿痛。既往有消化道穿孔病史。体检可见头面部皮肤明显增厚粗糙,伴多汗、油脂分泌增多,杵状指(趾)(图1A),双膝关节肿胀,压痛(+),未见其他阳性体征。
出处 《中国医师杂志》 CAS 2020年第1期146-149,共4页 Journal of Chinese Physician
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