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Results 1 - 4 of 4 for "Telangiectasia," hereditary "hemorrhagic," type 2
  1. Hereditary hemorrhagic telangiectasia 
    ... polyposis/hereditary hemorrhagic telangiectasia syndrome Genetic Testing Registry: Telangiectasia, hereditary hemorrhagic, type 2 Hereditary hemorrhagic telangiectasia National Organization for Rare Disorders ( ...
    https://medlineplus.gov/.../hereditary-hemorrhagic-telangiectasia - Genetics
  2. ACVRL1 gene 
    ... the ACVRL1 gene have been found to cause hereditary hemorrhagic telangiectasia type 2. Many ACVRL1 gene mutations substitute one protein building ... veins, resulting in the signs and symptoms of hereditary hemorrhagic telangiectasia type 2. ... This Health Condition MedlinePlus Genetics provides ...
    https://medlineplus.gov/genetics/gene/acvrl1 - Genetics
  3. ENG gene 
    ... the signs and symptoms of hereditary hemorrhagic telangiectasia type 1. More About This Health ... ALK-1 mutations in Dutch patients. Hum Genet. 2005 Jan;116(1-2):8-16. doi: 10.1007/s00439-004-1196- ...
    https://medlineplus.gov/genetics/gene/eng - Genetics
  4. SMAD4 gene 
    ... in abnormal TGF-β signaling in many cell types, which affects development of several body systems and leads to ... Citation on PubMed Howe JR, Sayed MG, Ahmed ...
    https://medlineplus.gov/genetics/gene/smad4 - Genetics