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A report on 10 new patients with heterozygous mutations in the COL11A1 gene and a review of genotype-phenotype correlations in type XI collagenopathies
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Clinical and radiographic findings in multiple epiphyseal dysplasia caused by MATN3 mutations: Description of 12 patients
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Missense mutations in the beta strands of the single A-domain of matrilin-3 result in multiple epiphyseal dysplasia
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Update of the UMD-FBN1 mutation database and creation of an FBN1 polymorphlism database