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Results 1 - 10 of 74 for Abnormal bone structure
  1. VCP gene 
    ... acid) in valosin-containing protein. Changes in the structure of this enzyme impair its ability to break down other proteins as part of the ubiquitin-proteasome system. As a result, excess and abnormal proteins build up in muscle, bone, and brain cells. The proteins form clumps (aggregates) ...
    https://medlineplus.gov/genetics/gene/vcp - Genetics
  2. COMP gene 
    ... cell involved in protein processing and transport. The abnormal COMP protein is ... of the long bones and short stature.Researchers believe that the lack ...
    https://medlineplus.gov/genetics/gene/comp - Genetics
  3. POLR1C gene 
    ... the face. These mutations appear to alter the structure and function of ... tissues. The abnormal cell death could underlie the specific problems with ...
    https://medlineplus.gov/genetics/gene/polr1c - Genetics
  4. POLR1D gene 
    ... the face. These mutations appear to alter the structure and function of ... tissues. The abnormal cell death could underlie the specific problems with ...
    https://medlineplus.gov/genetics/gene/polr1d - Genetics
  5. FLNB gene 
    ... FLNB gene variations may affect the maintenance of bone structure throughout the lifespan and result in differences in ... Prince RL. Common sequence variation in FLNB regulates bone structure in women in the general population and FLNB ...
    https://medlineplus.gov/genetics/gene/flnb - Genetics
  6. NOTCH2 gene 
    ... osteoporosis, and distinctive facial features, likely result from abnormal bone development and remodeling. Excess signaling through the overactive ...
    https://medlineplus.gov/genetics/gene/notch2 - Genetics
  7. VDR gene 
    ... Abrams SA. Calcium absorption, kinetics, bone density, and bone structure in patients with hereditary vitamin D-resistant rickets. ...
    https://medlineplus.gov/genetics/gene/vdr - Genetics
  8. LBR gene 
    ... Greenberg dysplasia. This severe condition is characterized by abnormal bone formation and is fatal before birth. Research suggests ...
    https://medlineplus.gov/genetics/gene/lbr - Genetics
  9. PITX1 gene 
    ... Because the PITX1 protein normally directs lower limb structure, bones, muscles, and tendons in the arms and hands ...
    https://medlineplus.gov/genetics/gene/pitx1 - Genetics
  10. ATP7A gene 
    ... to certain enzymes that are critical for the structure and function of bone, skin, hair, blood vessels, and the nervous system. ... activity of numerous copper-containing enzymes, affecting the structure and function of bone, skin, hair, blood vessels, and the nervous system. ...
    https://medlineplus.gov/genetics/gene/atp7a - Genetics
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