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Results 1 - 10 of 11 for Abnormality of the nose
  1. SMCHD1 gene 
    ... without other features of BAMS, or less severe abnormalities of the nose. Researchers suspect that additional genetic factors contribute to ...
    https://medlineplus.gov/genetics/gene/smchd1 - Genetics
  2. NOTCH1 gene 
    ... Notch1 function leads to the scalp and limb abnormalities characteristic of the ... of the mouth, nose, and throat. NOTCH1 gene mutations associated with this ...
    https://medlineplus.gov/genetics/gene/notch1 - Genetics
  3. ALX4 gene 
    ... the middle of the face, particularly affecting the nose, which leads to openings (clefts) in the nose. This abnormal development can also interfere with the ...
    https://medlineplus.gov/genetics/gene/alx4 - Genetics
  4. COL2A1 gene 
    ... and the cartilage that is present in the nose and external ears. Type II collagen is also ... formation (ossification) in the spine and hips. These abnormalities cause serious health problems, and infants with achondrogenesis ...
    https://medlineplus.gov/genetics/gene/col2a1 - Genetics
  5. COL11A2 gene 
    ... ends of bones and is present in the nose and external ears. Type XI collagen made with ... disorder of bone growth characterized by severe skeletal abnormalities and hearing loss. Infants with fibrochondrogenesis type 2 ...
    https://medlineplus.gov/genetics/gene/col11a2 - Genetics
  6. RUNX2 gene 
    ... ends of bones and is present in the nose, airways, and external ears.The RUNX2 protein is ... and brachydactyly (MDMHB). This condition is characterized by abnormalities near the ends of long bones (metaphyses), an ...
    https://medlineplus.gov/genetics/gene/runx2 - Genetics
  7. COL11A1 gene 
    ... ends of bones and is present in the nose and external ears. Type XI collagen is also ... disorder of bone growth characterized by severe skeletal abnormalities, hearing loss, and vision loss. Infants with fibrochondrogenesis ...
    https://medlineplus.gov/genetics/gene/col11a1 - Genetics
  8. SLC26A2 gene 
    ... ends of bones and is present in the nose and external ears.Cartilage cells use sulfate ions ... rounded abdomen. Serious health problems result from these abnormalities, and infants with achondrogenesis usually die before or ...
    https://medlineplus.gov/genetics/gene/slc26a2 - Genetics
  9. HSPG2 gene 
    ... ends of bones and is present in the nose and external ears.Perlecan is a heparan sulfate ... myotonia) that restricts movement, as well as bone abnormalities known as chondrodysplasia. Most of the mutations reduce ...
    https://medlineplus.gov/genetics/gene/hspg2 - Genetics
  10. CHST3 gene 
    ... ends of bones and is present in the nose and external ears.The C6ST-1 enzyme modifies ... a condition characterized by progressive bone and joint abnormalities. Most of the mutations change single protein building ...
    https://medlineplus.gov/genetics/gene/chst3 - Genetics
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