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Results 1 - 8 of 8 for Multiple epiphyseal dysplasia 5
  1. Multiple epiphyseal dysplasia 
    ... Multiple epiphyseal dysplasia type 4 Genetic Testing Registry: Multiple epiphyseal dysplasia type 5 Multiple epiphyseal dysplasia National Organization for Rare Disorders ( ...
    https://medlineplus.gov/.../condition/multiple-epiphyseal-dysplasia - Genetics
  2. COMP gene 
    ... multiple) COMP_HUMAN EDM1 EPD1 MED PSACH pseudoachondroplasia (epiphyseal dysplasia 1, multiple) THBS5 thrombospondin-5 Tests of COMP PubMed CARTILAGE OLIGOMERIC MATRIX PROTEIN; ...
    https://medlineplus.gov/genetics/gene/comp - Genetics
  3. COL9A1 gene 
    ... 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 ...
    https://medlineplus.gov/genetics/gene/col9a1 - Genetics
  4. COL9A2 gene 
    ... 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 ...
    https://medlineplus.gov/genetics/gene/col9a2 - Genetics
  5. MATN3 gene 
    ... 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 ...
    https://medlineplus.gov/genetics/gene/matn3 - Genetics
  6. COL9A3 gene 
    ... 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 ...
    https://medlineplus.gov/genetics/gene/col9a3 - Genetics
  7. Pseudoachondroplasia 
    ... 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; ...
    https://medlineplus.gov/genetics/condition/pseudoachondroplasia - Genetics
  8. Achondroplasia 
    ... of a group of conditions called chondrodystrophies or osteochondrodysplasias. These rare genetic disorders cause problems with the ...
    https://medlineplus.gov/ency/article/001577.htm - Medical Encyclopedia