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Results 1 - 4 of 4 for "Loeys-Dietz" syndrome 1
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  1. TGFBR1 gene 
    ... skeletal deformities. The TGFBR1 gene mutations that cause Loeys-Dietz syndrome are present in one copy of the gene in each cell. Most of these mutations change single protein building blocks (amino acids) in TGF-β receptor type 1, resulting in a receptor with little or no ...
    https://medlineplus.gov/genetics/gene/tgfbr1 - Genetics
  2. TGFB2 gene 
    ... with these deletions often have the features of Loeys-Dietz syndrome as well as features ... BSC-1 cell growth inhibitor cetermin G-TSF glioblastoma-derived ...
    https://medlineplus.gov/genetics/gene/tgfb2 - Genetics
  3. TGFBR2 gene 
    ... the TGFBR2 gene have been found to cause Loeys-Dietz syndrome type II. Loeys-Dietz syndrome affects connective tissue, which gives structure and support ...
    https://medlineplus.gov/genetics/gene/tgfbr2 - Genetics
  4. SMAD3 gene 
    ... the SMAD3 gene have been found to cause Loeys-Dietz syndrome type III. This disorder affects connective tissue, which ... skeleton, and many other parts of the body. Loeys-Dietz syndrome type III is characterized by abnormal blood vessels, ...
    https://medlineplus.gov/genetics/gene/smad3 - Genetics