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Results 1 - 5 of 5 for Chondrodysplasia punctata
  1. ARSL gene 
    ... the ARSL gene are responsible for X-linked chondrodysplasia punctata 1, a disorder of bone and cartilage development ... leads to the characteristic features of X-linked chondrodysplasia punctata 1. More About This Health Condition ARSE 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 in ... leads to the specific features of X-linked chondrodysplasia punctata 2.Rarely, a severe form of X-linked ...
    https://medlineplus.gov/genetics/gene/ebp - Genetics
  3. PEX7 gene 
    ... PEX7 gene have been found to cause rhizomelic chondrodysplasia punctata type 1 (RCDP1). These mutations tend to be ... analysis of PEX7 in 60 probands with rhizomelic chondrodysplasia punctata and functional correlations of genotype with phenotype. Hum ...
    https://medlineplus.gov/genetics/gene/pex7 - Genetics
  4. GNPAT gene 
    ... GNPAT gene have been found to cause rhizomelic chondrodysplasia punctata type 2 (RCDP2). These mutations prevent cells from ... and resolution of the molecular basis in rhizomelic chondrodysplasia punctata type 2. Hum Mol Genet. 1998 May;7( ...
    https://medlineplus.gov/genetics/gene/gnpat - Genetics
  5. AGPS gene 
    ... AGPS gene have been found to cause rhizomelic chondrodysplasia punctata type 3 (RCDP3). These mutations change single protein ...
    https://medlineplus.gov/genetics/gene/agps - Genetics