Results 1 - 10 of 14 for "Loeys-Dietz" syndrome 1
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  1. ... 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 ...
  2. Loeys-Dietz Syndrome (Marfan Foundation)  
    Connective Tissue Disorders/Specifics ... Connective Tissue Disorders ... Marfan Syndrome/Related Issues ... Marfan Syndrome ... Marfan Foundation ... Loeys-Dietz syndrome is ...
  3. ... 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 ...
  4. ... with these deletions often have the features of Loeys-Dietz syndrome as well as ... BSC-1 cell growth inhibitor cetermin G-TSF glioblastoma-derived ...
  5. ... the TGFBR2 gene have been found to cause Loeys-Dietz syndrome type II. Loeys-Dietz syndrome affects connective tissue, which gives structure and support ...
  6. ... 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, ...
  7. ... 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 ...
  8. What Are Related Conditions? (Marfan Foundation)  
    Marfan Syndrome/Related Issues ... Marfan Syndrome ... Marfan Foundation ... The Marfan Foundation's mission is to save lives and improve the quality of life of individuals ...
  9. ... in patients with features of Marfan syndrome and Loeys-Dietz syndrome. Hum Mutat. 2006 Aug;27(8):770-7. ...
  10. Beals Syndrome (Marfan Foundation)  
    Marfan Syndrome/Related Issues ... Marfan Syndrome ... Marfan Foundation ... Like Marfan, beals syndrome affects the body's connective tissues, however, beals can also ...
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