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Results 1 - 5 of 5 for "X-linked" 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. 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 ... childhood. Other skeletal abnormalities seen in people with X-linked chondrodysplasia punctata 2 include shortening of the bones in the ...
    https://medlineplus.gov/.../x-linked-chondrodysplasia-punctata-2 - Genetics
  3. ARSL gene 
    ... changes involving the ARSL gene are responsible for X-linked chondrodysplasia punctata 1, a disorder of bone and cartilage development ... cartilage and 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
  4. EBP gene 
    ... the EBP gene have been found to cause X-linked chondrodysplasia punctata 2, a condition that occurs almost exclusively in ... cholesterol production 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
  5. 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