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Results 1 - 8 of 8 for Epiphyseal "dysplasia," "multiple," 3
  1. Multiple epiphyseal dysplasia 
    ... Epiphyseal dysplasia, multiple, 1 Epiphyseal dysplasia, multiple, 2 Epiphyseal dysplasia, multiple, 3 Epiphyseal dysplasia, multiple, 4 Epiphyseal dysplasia, multiple, 5 ...
    https://medlineplus.gov/.../condition/multiple-epiphyseal-dysplasia - Genetics
  2. MATN3 gene 
    ... been shown to cause a mild form of multiple epiphyseal dysplasia. All of the mutations change one protein building block (amino acid) within or close to a region of matrilin-3 called the A-domain. One genetic change accounts ...
    https://medlineplus.gov/genetics/gene/matn3 - Genetics
  3. COL9A3 gene 
    ... 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
  4. COL9A1 gene 
    ... j.matbio.2007.11.007. Epub 2007 Dec 3. Citation on PubMed Briggs MD, Chapman KL. Pseudoachondroplasia and multiple epiphyseal dysplasia: mutation review, molecular interactions, and genotype to phenotype ...
    https://medlineplus.gov/genetics/gene/col9a1 - Genetics
  5. SLC26A2 gene 
    ... and diagnostic relevance. Hum Mutat. 2001 Mar;17(3):159-71. doi: 10.1002/humu.1. ... epiphyseal dysplasia with normal stature, club foot, and double layered ...
    https://medlineplus.gov/genetics/gene/slc26a2 - Genetics
  6. COMP gene 
    ... Gene ClinVar ... and MED phenotypes. J Cell Biochem. 2008 Feb 15;103(3):778-87. doi: 10.1002/jcb.21445. Citation ...
    https://medlineplus.gov/genetics/gene/comp - Genetics
  7. COL9A2 gene 
    ... near an area of the gene called exon 3. These mutations in the COL9A2 gene result ... Health Condition MedlinePlus Genetics provides ...
    https://medlineplus.gov/genetics/gene/col9a2 - Genetics
  8. 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