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Results 1 - 8 of 8 for "Loeys-Dietz" syndrome 1
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  1. Loeys-Dietz syndrome 
    ... Testing Registry: Loeys-Dietz syndrome Genetic Testing Registry: Loeys-Dietz syndrome 1 Genetic Testing Registry: Loeys-Dietz syndrome 2 Genetic ... National Organization for Rare Disorders (NORD) ClinicalTrials.gov LOEYS-DIETZ SYNDROME 1; LDS1 LOEYS-DIETZ SYNDROME 2; LDS2 LOEYS-DIETZ ...
    https://medlineplus.gov/genetics/condition/loeys-dietz-syndrome - Genetics
  2. 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
  3. 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
  4. 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
  5. 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
  6. Shprintzen-Goldberg syndrome 
    ... of Marfan syndrome and another genetic condition called Loeys-Dietz syndrome. However, intellectual disability is more likely to occur ... and usually more severe in Marfan syndrome and Loeys-Dietz syndrome. Shprintzen-Goldberg syndrome is a rare condition, although ...
    https://medlineplus.gov/.../condition/shprintzen-goldberg-syndrome - Genetics
  7. 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
  8. 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