Missense mutations in the β strands of the single A-domain of matrilin-3 result in multiple epiphyseal dysplasia

Abstract excerpt

ultiple epiphyseal dysplasia (MED) is a relatively mild and clinically variable osteochondrodysplasia in which the hip and knee joints are most frequently affected. Both autosomal dominant and autosomal recessive forms of MED are recognised. The more severe forms of MED are often described as the ''Fairbank type'', whereas the milder cases are known as the ''Ribbing type''. 2] However, the number of patients...

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