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Results 1 - 10 of 29 for Short face
  1. ... disorder that causes underdevelopment of bones in the face, arms, and legs as well as lung abnormalities. Affected individuals have abnormally short arm bones, such that the hands are located ...
  2. ... skin (lipodystrophy), excessive hair growth (hypertrichosis) on the face and body, shortened bones at the ends of the fingers and toes (short distal phalanges), and smaller-than-normal external female ...
  3. ... others lead to the production of an abnormally short, nonfunctional version of the ... of bones in the face, spine, and limbs. These changes lead to the ...
  4. ... facio-thoracic dysplasia lead to production of abnormally short TMCO1 proteins ... in the head, face, and torso, resulting in the features of cerebro- ...
  5. ... which involves involuntary jerking movements (chorea) of the face, torso, and ... in an abnormally short homeobox protein Nkx-2.1 that cannot function ...
  6. ... many parts of the body, including the brain, face, limbs, and kidneys.The OFD1 protein is located ... changes lead to the production of an abnormally short, nonfunctional version of the OFD1 protein. It is ...
  7. ... which affects the shape of the head and face. Females with craniofrontonasal ... lead to an abnormally short version of the molecule that acts as the ...
  8. ... digits), and dark patches of skin on the face. The FLNA gene variant that ... is abnormally short. Researchers suspect the altered protein may not be ...
  9. ... brain and of bones in the head and face (craniofacial bones). Having an extra copy of the ... Development of the bones in the head and face may also be affected, leading to subtle facial ...
  10. ... heart rhythm (arrhythmia), and physical abnormalities affecting the face, other parts of the head, and the limbs. ... gene can also cause a heart condition called short QT syndrome, which is a type of arrhythmia. ...
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