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A novel p.A191D matrilin-3 variant in a Vietnamese family with multiple epiphyseal dysplasia: A case report
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Multiple epiphyseal dysplasia (MED) is a common skeletal dysplasia that is characterized by variable degrees of epiphyseal abnormality primarily involving the hip and knee joints. Mutations in a gene encoding matrilin-3 (MATN3) have been reported as disease causing of autosomal dominant MED. |