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Results 1 - 10 of 16 for Thoracic hypoplasia
  1. IFT80 gene 
    ... asphyxiating thoracic dystrophy.In some affected individuals, asphyxiating thoracic dystrophy is also associated with abnormalities of the kidneys, liver, retinas, and other tissues. ...
    https://medlineplus.gov/genetics/gene/ift80 - Genetics
  2. DYNC2H1 gene 
    ... asphyxiating thoracic dystrophy.In some affected individuals, asphyxiating thoracic dystrophy is also associated with abnormalities of the kidneys, liver, retinas, and other tissues. ...
    https://medlineplus.gov/genetics/gene/dync2h1 - Genetics
  3. TMCO1 gene 
    ... mutations have been found to cause cerebro-facio-thoracic dysplasia, which is characterized by severe intellectual disability, distinctive facial features, and bone abnormalities that primarily involve the ribs and spinal bones ( ...
    https://medlineplus.gov/genetics/gene/tmco1 - Genetics
  4. NOTCH1 gene 
    ... higher than normal risk of developing other aortic abnormalities, such as a bulge in the wall of the aorta (thoracic aortic aneurysm) or a sudden tearing of the ...
    https://medlineplus.gov/genetics/gene/notch1 - Genetics
  5. IFT140 gene 
    ... caused by problems with cilia and involve bone abnormalities are called skeletal ciliopathies. More About This Health Condition MedlinePlus Genetics provides information about Asphyxiating thoracic dystrophy More About This Health Condition c305C8.4 ...
    https://medlineplus.gov/genetics/gene/ift140 - Genetics
  6. FBN1 gene 
    ... tissue, which causes the eye, heart, and skeletal abnormalities associated with Weill-Marchesani syndrome. More About This Health Condition MedlinePlus Genetics provides information about Familial thoracic aortic aneurysm and dissection More About This Health ...
    https://medlineplus.gov/genetics/gene/fbn1 - Genetics
  7. SMAD3 gene 
    ... and skin development. These changes lead to the abnormalities typical of Loeys-Dietz syndrome type III. More About This Health Condition MedlinePlus Genetics provides information about Familial thoracic aortic aneurysm and dissection More About This Health ...
    https://medlineplus.gov/genetics/gene/smad3 - Genetics
  8. WDR35 gene 
    ... Health Condition MedlinePlus Genetics provides ... survive to birth. Bone abnormalities in short-rib polydactyly type 5 include extremely ...
    https://medlineplus.gov/genetics/gene/wdr35 - Genetics
  9. ACTA2 gene 
    ... mutations have been identified in people with familial thoracic aortic aneurysm and dissection (familial TAAD). This disorder ... I, Yacoub MH. Cellular and molecular mechanisms of thoracic aortic aneurysms. Nat Rev Cardiol. 2009 Dec;6( ...
    https://medlineplus.gov/genetics/gene/acta2 - Genetics
  10. TGFBR2 gene 
    ... mutations have been identified in people with familial thoracic aortic aneurysm and dissection (familial TAAD). This disorder ... on PubMed Jondeau G, Boileau C. Genetics of thoracic aortic aneurysms. Curr Atheroscler Rep. 2012 Jun;14( ...
    https://medlineplus.gov/genetics/gene/tgfbr2 - Genetics
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