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Five patients in a Chinese family with multiple epiphyseal dysplasia
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作者 LIU Feng-xia YU Meng-xue LI Yong-zhe CAO jin 《Chinese Medical Journal》 SCIE CAS CSCD 2009年第17期2076-2078,共3页
Multiple epiphyseal dysplasia (MED) is an .osteochondrodysplasia characterized clinically by mild short stature and early-onset degenerative joint disease and radiographically by epiphyseal hypoplasia/ dysplasia. Ho... Multiple epiphyseal dysplasia (MED) is an .osteochondrodysplasia characterized clinically by mild short stature and early-onset degenerative joint disease and radiographically by epiphyseal hypoplasia/ dysplasia. However, the intelligence of the patients is within the normal range. We report a rare case of a MED family with five affected individuals seen in 2009 as follows. 展开更多
关键词 multiple epiphyseal dysplasia gene mutation
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