Malwina Czarny-Ratacjzak

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Multiple epiphyseal dysplasia (MED) is a clinically and genetically heterogeneous chondrodysplasia. Mutations in six genes (COMP, COL9A1, COL9A2, COL9A3, MATN3 and DTDST) have been reported, but the genotype–phenotype correlations and the proportions of cases due to mutations in these genes are still not well characterized. We performed a clinical,(More)
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