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Results 1 - 10 of 14 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. Loeys-Dietz Syndrome (Marfan Foundation)  
    Marfan Syndrome/Related Issues ... Marfan Syndrome ... Connective Tissue Disorders/Specifics ... Connective Tissue Disorders ... Marfan Foundation ... Loeys-Dietz syndrome is ...
    https://marfan.org/conditions/loeys-dietz - External Health Links
  3. 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
  4. 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
  5. 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
  6. 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
  7. 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
  8. What Are Related Conditions? (Marfan Foundation)  
    ... the quality of life of individuals with Marfan syndrome and other genetic aortic conditions. Learn more!
    https://marfan.org/conditions - External Health Links
  9. 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
  10. Patient support and advocacy groups 
    ... United Little People of America Littlest Tumor Foundation Loeys-Dietz Syndrome Foundation Lowe Syndrome Association Lupus and Allied Diseases ... Association Poland Syndrome Support Group (UK) Potocki Shaffer Syndrome (Australia) ... SADS Foundation Sanfilippo Children's Foundation (Australia) Sarcomeric ...
    https://medlineplus.gov/about/general/genetics/supportadvocacygroups -
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