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Results 1 - 8 of 8 for Chondrodysplasia
  1. ARSL gene 
    ... the ARSL gene are responsible for X-linked chondrodysplasia punctata 1, a disorder of bone and cartilage ... leads to the characteristic features of X-linked chondrodysplasia punctata 1. More About This Health Condition ARSE ...
    https://medlineplus.gov/genetics/gene/arsl - Genetics
  2. EBP gene 
    ... gene have been found to cause X-linked chondrodysplasia punctata 2, a condition that occurs almost exclusively ... leads to the specific features of X-linked chondrodysplasia punctata 2.Rarely, a severe form of X- ...
    https://medlineplus.gov/genetics/gene/ebp - Genetics
  3. HSPG2 gene 
    ... movement, as well as bone abnormalities known as chondrodysplasia. Most of the mutations reduce the amount of ... development of cartilage and bone tissue, which underlies chondrodysplasia in affected individuals. A reduced amount of functional ...
    https://medlineplus.gov/genetics/gene/hspg2 - Genetics
  4. PEX7 gene 
    ... PEX7 gene have been found to cause rhizomelic chondrodysplasia punctata type 1 (RCDP1). These mutations tend to ... analysis of PEX7 in 60 probands with rhizomelic chondrodysplasia punctata and functional correlations of genotype with phenotype. ...
    https://medlineplus.gov/genetics/gene/pex7 - Genetics
  5. GNPAT gene 
    ... GNPAT gene have been found to cause rhizomelic chondrodysplasia punctata type 2 (RCDP2). These mutations prevent cells ... and resolution of the molecular basis in rhizomelic chondrodysplasia punctata type 2. Hum Mol Genet. 1998 May; ...
    https://medlineplus.gov/genetics/gene/gnpat - Genetics
  6. AGPS gene 
    ... AGPS gene have been found to cause rhizomelic chondrodysplasia punctata type 3 (RCDP3). These mutations change single ...
    https://medlineplus.gov/genetics/gene/agps - Genetics
  7. CHST3 gene 
    ... O-sulfotransferase-1 function results in severe human chondrodysplasia with progressive spinal involvement. Proc Natl Acad Sci ...
    https://medlineplus.gov/genetics/gene/chst3 - Genetics
  8. SLC26A2 gene 
    ... DTDST) gene: correlation between sulfate transport activity and chondrodysplasia phenotype. Hum Mol Genet. 2001 Jul 1;10( ...
    https://medlineplus.gov/genetics/gene/slc26a2 - Genetics