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Results 1 - 4 of 4 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