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Results 1 - 6 of 6 for Absent vertebra
  1. DLL3 gene 
    ... protein. When the DLL3 protein is nonfunctional or absent, the NOTCH1 protein is abnormally active and does not oscillate, so somite segmentation does not occur properly. This results in the malformation and fusion of the bones of the spine and ribs seen in spondylocostal dysostosis type 1. ...
    https://medlineplus.gov/genetics/gene/dll3 - Genetics
  2. MESP2 gene 
    ... protein. When the MESP2 protein is nonfunctional or absent, the NOTCH1 ... of the spine and ribs seen in spondylothoracic dysostosis. More About ...
    https://medlineplus.gov/genetics/gene/mesp2 - Genetics
  3. DYRK1A gene 
    ... enzyme that does not function properly. Impaired or absent DYRK1A enzyme function likely leads to abnormal regulation ... associated Dyrk1a truncation mutants impair neuronal dendritic and spine growth and interfere with postnatal cortical development. Mol ...
    https://medlineplus.gov/genetics/gene/dyrk1a - Genetics
  4. SHANK3 gene 
    ... contribute to the developmental delay, intellectual disability, and absent or severely delayed speech characteristic of people with ...
    https://medlineplus.gov/genetics/gene/shank3 - Genetics
  5. ROR2 gene 
    ... the fourth and fifth digits, and malformed or absent fingernails and toenails. (The term "brachydactyly" is from ...
    https://medlineplus.gov/genetics/gene/ror2 - Genetics
  6. NOG gene 
    ... tip of the digit is abnormally small or absent. In addition, people with this condition can have ...
    https://medlineplus.gov/genetics/gene/nog - Genetics