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Results 1 - 10 of 13 for Abnormal form of the vertebral bodies
  1. FHL1 gene 
    ... mutations may result in the production of an abnormal version of the protein that ... myopathy, and rigid spine syndrome, but it is unclear how they are ...
    https://medlineplus.gov/genetics/gene/fhl1 - Genetics
  2. SLC26A2 gene 
    ... legs (epiphyses). SLC26A2 gene mutations cause the recessive form of the disorder, which is also characterized by malformations of the hands, feet, and knees; abnormal curvature of the spine (scoliosis); and other birth defects.Mutations that cause ...
    https://medlineplus.gov/genetics/gene/slc26a2 - Genetics
  3. SELENON gene 
    ... of accumulated proteins in the muscle fibers. These abnormal regions can ... spine stiffness, scoliosis, and serious breathing problems. Because they ...
    https://medlineplus.gov/genetics/gene/selenon - Genetics
  4. HLA-B gene 
    ... inflammation (chronic inflammatory arthritis) that primarily affects the ... or the presence of abnormal forms of the protein on the cell surface. It ...
    https://medlineplus.gov/genetics/gene/hla-b - Genetics
  5. MTHFR gene 
    ... common type of neural tube defect. When the spine forms in people with this condition, the bones of the spinal column do not close completely around the developing nerves of the ... in the spine, leading to permanent nerve damage.As described above, ...
    https://medlineplus.gov/genetics/gene/mthfr - Genetics
  6. EXT2 gene 
    ... in early childhood. Affected individuals also have an abnormal curvature of the spine (scoliosis), an unusually large head (macrocephaly), intellectual disability, ...
    https://medlineplus.gov/genetics/gene/ext2 - Genetics
  7. TTN gene 
    ... often learn to walk later than their peers. Abnormal side-to-side curvature of the spine (scoliosis) and difficulty breathing also commonly occur, and ...
    https://medlineplus.gov/genetics/gene/ttn - Genetics
  8. IL1A gene 
    ... risk of ankylosing spondylitis. This condition is a form of painful, ongoing joint inflammation (chronic inflammatory arthritis) that primarily affects the spine. Each of these variations changes a single protein ...
    https://medlineplus.gov/genetics/gene/il1a - Genetics
  9. COL2A1 gene 
    ... of the discs between the bones of the spine (vertebrae).To construct type II collagen, three alpha-1(II) chains twist together to form a procollagen molecule. Procollagen molecules are then processed ...
    https://medlineplus.gov/genetics/gene/col2a1 - Genetics
  10. FLNB gene 
    ... that affects the development of bones throughout the body. These mutations change single amino acids in the filamin B protein or delete a small section of the protein sequence, resulting in an abnormal protein. This abnormal protein appears to have a ...
    https://medlineplus.gov/genetics/gene/flnb - Genetics
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