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Results 1 - 10 of 18 for Thoracic
  1. DYNC2H1 gene 
    ... gene have been identified in people with asphyxiating thoracic dystrophy, an inherited disorder of bone growth characterized ... the abnormalities of bone growth characteristic of asphyxiating thoracic dystrophy.In some affected individuals, asphyxiating thoracic dystrophy ...
    https://medlineplus.gov/genetics/gene/dync2h1 - Genetics
  2. 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
  3. TMCO1 gene 
    ... mutations have been found to cause cerebro-facio-thoracic dysplasia, which is characterized by severe intellectual disability, ... vertebrae). The gene mutations that cause cerebro-facio-thoracic dysplasia lead to production of abnormally short TMCO1 ...
    https://medlineplus.gov/genetics/gene/tmco1 - Genetics
  4. IFT80 gene 
    ... the first genetic changes found to cause asphyxiating thoracic dystrophy, an inherited disorder of bone growth characterized ... the abnormalities of bone growth characteristic of asphyxiating thoracic dystrophy.In some affected individuals, asphyxiating thoracic dystrophy ...
    https://medlineplus.gov/genetics/gene/ift80 - Genetics
  5. 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
  6. NOTCH1 gene 
    ... a bulge in the wall of the aorta (thoracic aortic aneurysm) or a sudden tearing of the ... also play a role in the development of thoracic aortic aneurysms and in calcification of the valve. ...
    https://medlineplus.gov/genetics/gene/notch1 - Genetics
  7. SMAD3 gene 
    ... Health Condition MedlinePlus Genetics provides information about Familial thoracic aortic aneurysm and dissection More About This Health ... identifies SMAD3 mutations as a cause of familial thoracic aortic aneurysm and dissection with intracranial and other ...
    https://medlineplus.gov/genetics/gene/smad3 - Genetics
  8. SMARCA4 gene 
    ... other cancers in the chest called SMARCA4-deficiency thoracic sarcomas. The mechanism by which variants in the ... F. SMARCA4 inactivation defines a group of undifferentiated thoracic malignancies transcriptionally related to BAF-deficient sarcomas. Nat ...
    https://medlineplus.gov/genetics/gene/smarca4 - Genetics
  9. WDR35 gene 
    ... Health Condition MedlinePlus Genetics provides information about Asphyxiating thoracic dystrophy More About This Health Condition WDR35 gene ... WDR35_HUMAN Tests of WDR35 PubMed SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY; SRTD7 WD ...
    https://medlineplus.gov/genetics/gene/wdr35 - Genetics
  10. FBN1 gene 
    ... Health Condition MedlinePlus Genetics provides information about Familial thoracic aortic aneurysm and dissection More About This Health ... Belmont JW. FBN1 mutations in patients with descending thoracic aortic dissections. Am J Med Genet A. 2010 ...
    https://medlineplus.gov/genetics/gene/fbn1 - Genetics
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