Article
Comparison of orthopaedic manifestations of multiple epiphyseal dysplasia caused by MATN3 versus COMP mutations: a case control study.
BMC musculoskeletal disorders - 15 Mar 2014
Seo Sang Gyo, Song Hae-Ryong, Kim Hyun Woo, Yoo Won Joon, Shim Jong Sup, Chung Chin Youb, Park Moon Seok, Oh Chang-Wug, Jeong Changhoon, Song Kwang Soon, Kim Ok-Hwa, Park Sung Sup, Choi In Ho, Cho Tae-Joon
Abstract excerpt
BACKGROUND: Multiple epiphyseal dysplasia (MED) is a relatively common skeletal dysplasia mainly involving the epiphyses of the long bones. However, it is a genetically heterogeneous group of diseases sharing certain aspects of the radiologic phenotype. In surveys conducted in East Asia, MATN3 was the most common causative gene, followed by COMP. In this study, the authors compared clinical manifestation of MED...
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