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Results 1 - 10 of 31 for Thoracic
  1. Asphyxiating thoracic dystrophy 
    Asphyxiating thoracic dystrophy, also known as Jeune syndrome, is an inherited disorder of bone growth characterized by a narrow chest, short ribs, shortened bones ...
    https://medlineplus.gov/.../asphyxiating-thoracic-dystrophy - Genetics
  2. Cerebro-facio-thoracic dysplasia 
    Cerebro-facio-thoracic dysplasia is a rare condition characterized by abnormal development (dysplasia) of the brain (cerebro) and structures in the face (facio) ...
    https://medlineplus.gov/.../cerebro-facio-thoracic-dysplasia - Genetics
  3. Familial thoracic aortic aneurysm and dissection 
    Familial thoracic aortic aneurysm and dissection (familial TAAD) involves problems with the aorta, which is the large blood vessel ... This part of the aorta is called the thoracic aorta because it is located in the chest ( ...
    https://medlineplus.gov/...l-thoracic-aortic-aneurysm-and-dissection - Genetics
  4. Smith-Kingsmore syndrome 
    ... facial dysmorphism Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome MINDS syndrome SKS Genetic Testing Registry: Macrocephaly- ...
    https://medlineplus.gov/genetics/condition/smith-kingsmore-syndrome - Genetics
  5. Mainzer-Saldino syndrome 
    ... Saldino-Mainzer dysplasia Saldino-Mainzer syndrome Short-rib thoracic dysplasia 9 SRTD9 Genetic Testing Registry: Saldino-Mainzer ... National Organization for Rare Disorders (NORD) SHORT-RIB THORACIC DYSPLASIA 9 WITH OR WITHOUT POLYDACTYLY; SRTD9 PubMed ...
    https://medlineplus.gov/genetics/condition/mainzer-saldino-syndrome - Genetics
  6. 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
  7. 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
  8. Alpha-1 antitrypsin deficiency 
    ... deficiency: phenotypes and genetic modifiers of emphysema risk. Thorax. 2004 Mar;59(3):259-64. doi: 10. ... Parfrey H. Alpha1-antitrypsin deficiency. 4: Molecular pathophysiology. Thorax. 2004 Jun;59(6):529-35. doi: 10. ...
    https://medlineplus.gov/.../condition/alpha-1-antitrypsin-deficiency - Genetics
  9. 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
  10. 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
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