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Results 1 - 10 of 12 for Chondrodysplasia punctata
  1. X-linked chondrodysplasia punctata 1 
    X-linked chondrodysplasia punctata 1 is a disorder of cartilage and bone development that occurs almost exclusively in males. Chondrodysplasia punctata ...
    https://medlineplus.gov/.../x-linked-chondrodysplasia-punctata-1 - Genetics
  2. Rhizomelic chondrodysplasia punctata 
    Rhizomelic chondrodysplasia punctata is a condition that impairs the normal development of many parts of the body. The major features of this disorder include skeletal ...
    https://medlineplus.gov/.../rhizomelic-chondrodysplasia-punctata - Genetics
  3. X-linked chondrodysplasia punctata 2 
    X-linked chondrodysplasia punctata 2 is a disorder characterized by bone, skin, and eye abnormalities. It occurs almost exclusively in females.Although ...
    https://medlineplus.gov/.../x-linked-chondrodysplasia-punctata-2 - Genetics
  4. 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
  5. 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
  6. 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
  7. Bone Diseases (National Library of Medicine)  
    Your bones help you move, give you shape and support your body. They are living tissues that rebuild constantly throughout your life. During childhood and ...
    https://medlineplus.gov/bonediseases.html - Health Topics
  8. 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
  9. 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
  10. Lipid Metabolism Disorders (National Library of Medicine)  
    Metabolism is the process your body uses to make energy from the food you eat. Food is made up of proteins, carbohydrates, and fats. Chemicals in your digestive ...
    https://medlineplus.gov/lipidmetabolismdisorders.html - Health Topics
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