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Results 1 - 7 of 7 for "Loeys-Dietz" syndrome 2
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  1. Loeys-Dietz syndrome 
    ... Registry: Loeys-Dietz syndrome 1 Genetic Testing Registry: Loeys-Dietz syndrome 2 Genetic Testing Registry: Loeys-Dietz syndrome 4 Loeys- ... NORD) ClinicalTrials.gov LOEYS-DIETZ SYNDROME 1; LDS1 LOEYS-DIETZ SYNDROME 2; LDS2 LOEYS-DIETZ SYNDROME 5; LDS5 LOEYS-DIETZ ...
    https://medlineplus.gov/genetics/condition/loeys-dietz-syndrome - Genetics
  2. TGFBR2 gene 
    ... skeletal deformities. Most TGFBR2 gene mutations that cause Loeys-Dietz syndrome change single protein building blocks (amino acids) in TGF-β receptor type 2, resulting in a receptor with little or no ...
    https://medlineplus.gov/genetics/gene/tgfbr2 - Genetics
  3. TGFB2 gene 
    ... skeleton, and many other parts of the body. Loeys-Dietz syndrome type IV is characterized by blood vessel abnormalities, heart defects, and skeletal deformities. The TGFB2 gene mutations that cause this condition lead to the production of a TGFβ-2 protein with little or no function. As a ...
    https://medlineplus.gov/genetics/gene/tgfb2 - Genetics
  4. Shprintzen-Goldberg syndrome 
    ... of Marfan syndrome and another genetic condition called Loeys-Dietz syndrome. However, intellectual disability is more likely to occur in Shprintzen-Goldberg syndrome than in the other two conditions. In addition, heart abnormalities are more common ...
    https://medlineplus.gov/.../condition/shprintzen-goldberg-syndrome - Genetics
  5. SMAD3 gene 
    ... These changes lead to the abnormalities typical of Loeys-Dietz syndrome type III. More About This ... hMAD-3 hSMAD3 JV15-2 MAD homolog 3 MAD, mothers against decapentaplegic homolog ...
    https://medlineplus.gov/genetics/gene/smad3 - Genetics
  6. Marfan syndrome 
    ... in patients with features of Marfan syndrome and Loeys-Dietz syndrome. Hum Mutat. 2006 Aug;27(8):770-7. ...
    https://medlineplus.gov/genetics/condition/marfan-syndrome - Genetics
  7. Familial thoracic aortic aneurysm and dissection 
    ... features of related conditions called Marfan syndrome or Loeys-Dietz syndrome. These features include tall stature, stretch marks on ...
    https://medlineplus.gov/...l-thoracic-aortic-aneurysm-and-dissection - Genetics