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Results 1 - 9 of 9 for Short lower limbs
  1. TECPR2 gene 
    ... worsening muscle stiffness (spasticity) and paralysis in the lower limbs ... an abnormally short protein that is likely broken down quickly. Alteration ...
    https://medlineplus.gov/genetics/gene/tecpr2 - Genetics
  2. REEP1 gene 
    ... by muscle stiffness (spasticity) and paralysis of the lower limbs ... result in a short, nonfunctional protein that is quickly broken down. As ...
    https://medlineplus.gov/genetics/gene/reep1 - Genetics
  3. PITX1 gene 
    ... plays a critical role in development of the lower limbs. The PITX1 protein is found primarily in the ... the shape and structure of tissues in the lower limbs, including the bones, muscles, and tendons (the bands ...
    https://medlineplus.gov/genetics/gene/pitx1 - Genetics
  4. FGFR3 gene 
    ... achondroplasia, which is the most common form of short-limbed dwarfism. Both variants lead to the same ... identified in people with hypochondroplasia, another form of short-limbed dwarfism that is milder than achondroplasia. Many ...
    https://medlineplus.gov/genetics/gene/fgfr3 - Genetics
  5. TTN gene 
    ... and lead to the production of an abnormally short version of the titin protein. The defective protein ... time, resulting in the signs and symptoms of limb-girdle muscular dystrophy. More About ... at the front of the lower leg. The FINmaj variant (described above) has been ...
    https://medlineplus.gov/genetics/gene/ttn - Genetics
  6. SF3B4 gene 
    ... well as lung abnormalities. Affected individuals have abnormally short arm bones, such that the hands are located ... the fingers, toes, and a bone in the lower leg called the fibula are usually ... AFD1 Hsh49 ...
    https://medlineplus.gov/genetics/gene/sf3b4 - Genetics
  7. NKX2-1 gene 
    ... brain-lung-thyroid syndrome result in an abnormally short homeobox protein Nkx-2.1 that cannot function ...
    https://medlineplus.gov/genetics/gene/nkx2-1 - Genetics
  8. NOTCH1 gene 
    ... Oliver syndrome lead to production of an abnormally short protein that is likely broken down quickly, causing ... of Notch1 function leads to the scalp and limb abnormalities characteristic of the ... itself, such as the two lower chambers of the heart (the ventricles) or the ...
    https://medlineplus.gov/genetics/gene/notch1 - Genetics
  9. PMP22 gene 
    ... copying (duplication) of a small piece of the short (p) arm of chromosome 17 in a region ...
    https://medlineplus.gov/genetics/gene/pmp22 - Genetics