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Results 1 - 10 of 38 for Spine
  1. SELENON gene 
    ... neck (the axial muscles); abnormal curvature of the spine (scoliosis); and serious breathing problems. Many of the ... gene mutations have been found to cause rigid spine muscular dystrophy 1 (RSMD1). In people with this ...
    https://medlineplus.gov/genetics/gene/selenon - Genetics
  2. SYNGAP1 gene 
    ... impair cognitive development by disrupting maturation of dendritic spine synapses. Cell. 2012 Nov 9;151(4):709- ...
    https://medlineplus.gov/genetics/gene/syngap1 - Genetics
  3. FHL1 gene 
    ... myopathy with postural muscle atrophy (XMPMA), and rigid spine syndrome. Together with Emery-Dreifuss muscular dystrophy, these ... lower legs; contractures involving the joints of the spine (rigid spine); and heart abnormalities. However, the disorders ...
    https://medlineplus.gov/genetics/gene/fhl1 - Genetics
  4. MESP2 gene 
    ... in the development of the bones of the spine (vertebrae). Specifically, the MESP2 protein and the Notch ... characterized by abnormal development of bones in the spine and ribs. All of the known mutations replace ...
    https://medlineplus.gov/genetics/gene/mesp2 - Genetics
  5. COL2A1 gene 
    ... of the discs between the bones of the spine (vertebrae).To construct type II collagen, three pro- ... lack of normal bone formation (ossification) in the spine and hips. These abnormalities cause serious health problems, ...
    https://medlineplus.gov/genetics/gene/col2a1 - Genetics
  6. NOTCH3 gene 
    ... meninges) through gaps in the bones of the spine (vertebrae). The protrusions are most common and typically larger in the lower spine. The meningoceles associated with this disorder may damage ...
    https://medlineplus.gov/genetics/gene/notch3 - Genetics
  7. DYRK1A gene 
    ... involved in the formation and maturation of dendritic spines from dendrites. Dendrites are specialized extensions from neurons ... essential for the transmission of nerve impulses. Dendritic spines are small outgrowths from dendrites that further help ...
    https://medlineplus.gov/genetics/gene/dyrk1a - Genetics
  8. TBXT gene 
    ... the base of the skull or in the spine. The notochord helps control the development of the ... is a cancerous tumor that occurs along the spine or in the base of the skull, gradually ...
    https://medlineplus.gov/genetics/gene/tbxt - Genetics
  9. DLL3 gene 
    ... by the abnormal development of bones in the spine and ribs. The known mutations in the DLL3 ... malformation and fusion of the bones of the spine and ribs seen in spondylocostal dysostosis type 1. ...
    https://medlineplus.gov/genetics/gene/dll3 - Genetics
  10. MTHFR gene 
    ... common type of neural tube defect. When the spine forms in people with this condition, the bones ... may stick out through an opening in the spine, leading to permanent nerve damage.As described above, ...
    https://medlineplus.gov/genetics/gene/mthfr - Genetics
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