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Multiple epiphyseal dysplasia 5
- ... Multiple epiphyseal dysplasia type 4 Genetic Testing Registry: Multiple epiphyseal dysplasia type 5 Multiple epiphyseal dysplasia National Organization for Rare Disorders ( ...
- ... multiple) COMP_HUMAN EDM1 EPD1 MED PSACH pseudoachondroplasia (epiphyseal dysplasia 1, multiple) THBS5 thrombospondin-5 Tests of COMP PubMed CARTILAGE OLIGOMERIC MATRIX PROTEIN; ...
- ... Ala-Kokko L. A mutation in COL9A1 causes multiple epiphyseal dysplasia: further evidence for locus heterogeneity. Am J Hum Genet. 2001 Nov;69(5):969-80. doi: 10.1086/324023. Epub 2001 ...
- ... on PubMed Briggs MD, Chapman KL. Pseudoachondroplasia and multiple epiphyseal dysplasia: mutation review, molecular interactions, and genotype to phenotype correlations. Hum Mutat. 2002 May;19(5):465-78. doi: 10.1002/humu.10066. Citation ...
- ... Gene ClinVar Briggs MD, Chapman KL. Pseudoachondroplasia and multiple epiphyseal dysplasia: mutation review, molecular interactions, and genotype to phenotype correlations. Hum Mutat. 2002 May;19(5):465-78. doi: 10.1002/humu.10066. Citation ...
- ... Gene ClinVar Briggs MD, Chapman KL. Pseudoachondroplasia and multiple epiphyseal dysplasia: mutation review, molecular interactions, and genotype to phenotype correlations. Hum Mutat. 2002 May;19(5):465-78. doi: 10.1002/humu.10066. Citation ...
- ... Unger S, Zankl A, Briggs MD. Pseudoachondroplasia and multiple epiphyseal dysplasia: a 7-year comprehensive analysis of the known ... systems for studying skeletal dysplasias caused by TSP-5/COMP mutations. Cell Mol Life Sci. 2008 Mar; ...