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Results 1 - 5 of 5 for Epiphyseal "dysplasia," "multiple," 7
  1. Pseudoachondroplasia 
    ... Unger S, Zankl A, Briggs MD. Pseudoachondroplasia and multiple epiphyseal dysplasia: a 7-year comprehensive analysis of the known disease genes ...
    https://medlineplus.gov/genetics/condition/pseudoachondroplasia - Genetics
  2. COL9A2 gene 
    ... alpha 2 collagen, type IX, alpha 2 EDM2 epiphyseal dysplasia, multiple 2 ... mutation in the COL9A2 gene causes autosomal recessive Stickler syndrome. Am J Med Genet A. 2011 Jul;155A(7):1668-72. doi: 10.1002/ajmg.a.34071. ...
    https://medlineplus.gov/genetics/gene/col9a2 - Genetics
  3. SLC26A2 gene 
    ... SLC26A2 gene have been found in people with multiple epiphyseal dysplasia, a disorder of cartilage and bone development that ... and other birth defects.Mutations that cause recessive multiple epiphyseal dysplasia typically replace one amino acid with another amino ...
    https://medlineplus.gov/genetics/gene/slc26a2 - Genetics
  4. COL9A1 gene 
    ... COL9A1 gene has been found to cause dominant multiple epiphyseal dysplasia, a disorder of cartilage and bone development that ... COL9A1 causes the signs and symptoms of dominant multiple epiphyseal dysplasia. More About This Health Condition MedlinePlus Genetics provides ...
    https://medlineplus.gov/genetics/gene/col9a1 - Genetics
  5. COL9A3 gene 
    ... COL9A3 gene have been shown to cause dominant multiple epiphyseal dysplasia. All of these mutations disrupt how genetic information ... COL9A3 cause the signs and symptoms of dominant multiple epiphyseal dysplasia.All identified mutations in type IX collagen delete ...
    https://medlineplus.gov/genetics/gene/col9a3 - Genetics