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Results 31 - 40 of 52 for Abnormality of limbs
  1. TTN gene 
    ... TTN gene variants have been found to cause limb-girdle muscular dystrophy type 2J (LGMD2J). Limb-girdle muscular dystrophy is a group of related ... skeletal muscles, particularly in the shoulders, hips, and limbs. LGMD2J is a type of limb-girdle muscular ...
    https://medlineplus.gov/genetics/gene/ttn - Genetics
  2. SALL4 gene 
    ... to play a critical role in the developing limbs. This protein may also be important for the ... of the SALL4 protein disrupts eye, heart, and limb development in people with Duane-radial ray syndrome ...
    https://medlineplus.gov/genetics/gene/sall4 - Genetics
  3. PMP22 gene 
    ... to the sensation commonly referred to as a limb "falling asleep." The ability of nerves to recover ... example when sitting for long periods, keeps the limbs from constantly losing sensation. The PMP22 gene also ...
    https://medlineplus.gov/genetics/gene/pmp22 - Genetics
  4. FBN1 gene 
    ... condition is characterized by severely short stature, short limbs, stiff joints, and distinctive facial features.FBN1 gene ... active. These effects likely contribute to the physical abnormalities that occur in acromicric dysplasia, but the mechanisms ...
    https://medlineplus.gov/genetics/gene/fbn1 - Genetics
  5. FGFR2 gene 
    ... AM, Hamel BC. FGFs, their receptors, and human limb malformations: clinical and molecular correlations. Am J Med ...
    https://medlineplus.gov/genetics/gene/fgfr2 - Genetics
  6. LAMA2 gene 
    ... This Health Condition MedlinePlus Genetics provides information about Limb-girdle muscular dystrophy More About This Health Condition ... J, Pegoraro E. Clinical and molecular characterization of limb-girdle muscular dystrophy due to LAMA2 mutations. Muscle ...
    https://medlineplus.gov/genetics/gene/lama2 - Genetics
  7. GJC2 gene 
    ... hereditary lymphedema that causes abnormal swelling of the limbs.Spastic paraplegia type 44 is characterized by muscle stiffness (spasticity), paralysis of the upper limbs (paraplegia), impaired speech (dysarthria), and mild intellectual disability. ...
    https://medlineplus.gov/genetics/gene/gjc2 - Genetics
  8. TWIST1 gene 
    ... twisted hand: bHLH protein phosphorylation and dimerization regulate limb development. Bioessays. 2005 Nov;27(11):1102-6. ...
    https://medlineplus.gov/genetics/gene/twist1 - Genetics
  9. SF3B4 gene 
    ... BMP signaling pathway impair normal bone development and limb formation in babies with this condition. AFD1 Hsh49 ...
    https://medlineplus.gov/genetics/gene/sf3b4 - Genetics
  10. TWNK gene 
    ... and loss of sensation and weakness in the limbs (peripheral neuropathy). C10orf2 chromosome 10 open reading frame ...
    https://medlineplus.gov/genetics/gene/twnk - Genetics
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