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Results 1 - 10 of 29 for Deformity
  1. SHOX gene 
    ... the wrist and forearm bones known as Madelung deformity. More About This Health Condition Léri-Weill dyschondrosteosis ... relation to mutation, sex, and degree of wrist deformity. J Clin Endocrinol Metab. 2004 Sep;89(9): ...
    https://medlineplus.gov/genetics/gene/shox - Genetics
  2. FKBP10 gene 
    ... southwest Alaska. This condition is characterized by joint deformities called contractures, particularly in the knees, ankles, and ... with these more severe gene mutations have joint deformities in addition to fragile bones and others do ...
    https://medlineplus.gov/genetics/gene/fkbp10 - Genetics
  3. FGFR3 gene 
    ... loss, decreased saliva production, small teeth, and hand deformities. The FGFR3 gene variant that causes LADD syndrome ...
    https://medlineplus.gov/genetics/gene/fgfr3 - Genetics
  4. TPM2 gene 
    ... arthrogryposis type 1, a disorder characterized by joint deformities (contractures) in the hands and feet. It is ...
    https://medlineplus.gov/genetics/gene/tpm2 - Genetics
  5. TTN gene 
    ... may have low muscle tone (hypotonia) or joint deformities that limit their ability to move (contractures). Babies ...
    https://medlineplus.gov/genetics/gene/ttn - Genetics
  6. EMD gene 
    ... condition affects skeletal and cardiac muscle, causing joint deformities called contractures, which restrict the movement of certain ...
    https://medlineplus.gov/genetics/gene/emd - Genetics
  7. LBR gene 
    ... Noort G, Waterham HR, Hall CM, Hennekam RC. Congenital abnormalities reported in Pelger-Huet homozygosity as compared to ...
    https://medlineplus.gov/genetics/gene/lbr - Genetics
  8. TGFBR1 gene 
    ... is characterized by blood vessel abnormalities and skeletal deformities. The TGFBR1 gene mutations that cause Loeys-Dietz ...
    https://medlineplus.gov/genetics/gene/tgfbr1 - Genetics
  9. SMAD3 gene 
    ... characterized by abnormal blood vessels, skeletal and joint deformities, and skin abnormalities. Some of the mutations that ...
    https://medlineplus.gov/genetics/gene/smad3 - Genetics
  10. ANTXR2 gene 
    ... under the skin and in internal organs, joint deformities called contractures that restrict movement, and overgrowth of ...
    https://medlineplus.gov/genetics/gene/antxr2 - Genetics
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