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Results 1 - 5 of 5 for Multiple epiphyseal dysplasia type 4
  1. COL9A3 gene 
    ... alpha 3 collagen, type IX, alpha 3 DJ885L7.4.1 EDM3 FLJ90759 IDD Tests of COL9A3 PubMed COLLAGEN, TYPE IX, ALPHA-3; COL9A3 NCBI Gene ClinVar Briggs MD, Chapman KL. Pseudoachondroplasia and multiple epiphyseal dysplasia: mutation review, molecular interactions, and genotype to phenotype ...
    https://medlineplus.gov/genetics/gene/col9a3 - Genetics
  2. COL9A1 gene 
    ... 2 FLJ40263 MED Tests of COL9A1 ... Briggs MD, Chapman KL. Pseudoachondroplasia and multiple epiphyseal dysplasia: mutation review, molecular interactions, and genotype to phenotype ...
    https://medlineplus.gov/genetics/gene/col9a1 - Genetics
  3. COMP gene 
    ... radiological review significantly increases mutation detection rate in multiple epiphyseal dysplasia. Eur J Hum Genet. 2007 Feb;15(2):150-4. doi: 10.1038/sj.ejhg.5201744. Epub 2006 ...
    https://medlineplus.gov/genetics/gene/comp - Genetics
  4. COL9A2 gene 
    ... alpha 2 collagen, type IX, alpha 2 EDM2 epiphyseal dysplasia, multiple 2 Tests of COL9A2 PubMed COLLAGEN, TYPE IX, ALPHA-2; COL9A2 INTERVERTEBRAL DISC DISEASE; IDD ...
    https://medlineplus.gov/genetics/gene/col9a2 - Genetics
  5. SLC26A2 gene 
    ... bones. More About This Health Condition At least four mutations in the SLC26A2 gene have been found in people with multiple epiphyseal dysplasia, a disorder of cartilage and bone development that ...
    https://medlineplus.gov/genetics/gene/slc26a2 - Genetics