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Results 1 - 8 of 8 for Multiple Epiphyseal "Dysplasia," Dominant
  1. Multiple epiphyseal dysplasia 
    ... dysplasia, multiple, 5 Epiphyseal dysplasia, Ribbing type MED Multiple epiphyseal dysplasia, autosomal dominant Multiple epiphyseal dysplasia, autosomal recessive RMED Genetic Testing ...
    https://medlineplus.gov/.../condition/multiple-epiphyseal-dysplasia - Genetics
  2. COL9A1 gene 
    ... on PubMed Briggs MD, Wright MJ, Mortier GR. Multiple Epiphyseal Dysplasia, Autosomal Dominant. 2003 Jan 8 [updated 2024 Jul 4]. In: ...
    https://medlineplus.gov/genetics/gene/col9a1 - Genetics
  3. COL9A3 gene 
    ... on PubMed Briggs MD, Wright MJ, Mortier GR. Multiple Epiphyseal Dysplasia, Autosomal Dominant. 2003 Jan 8 [updated 2024 Jul 4]. In: ...
    https://medlineplus.gov/genetics/gene/col9a3 - Genetics
  4. COL9A2 gene 
    ... on PubMed Briggs MD, Wright MJ, Mortier GR. Multiple Epiphyseal Dysplasia, Autosomal Dominant. 2003 Jan 8 [updated 2024 Jul 4]. In: ...
    https://medlineplus.gov/genetics/gene/col9a2 - Genetics
  5. COMP gene 
    ... 20 mutations in the COMP gene that cause dominant multiple epiphyseal dysplasia have been identified. This disorder can also be ... gene.Mutations in the COMP gene that cause dominant multiple epiphyseal dysplasia change one protein building block (amino acid) or ...
    https://medlineplus.gov/genetics/gene/comp - Genetics
  6. MATN3 gene 
    ... on PubMed Briggs MD, Wright MJ, Mortier GR. Multiple Epiphyseal Dysplasia, Autosomal Dominant. 2003 Jan 8 [updated 2024 Jul 4]. In: ...
    https://medlineplus.gov/genetics/gene/matn3 - Genetics
  7. Pseudoachondroplasia 
    ... Unger S, Zankl A, Briggs MD. Pseudoachondroplasia and multiple epiphyseal dysplasia: a 7-year comprehensive analysis of the known ...
    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