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teleangiektázia dedičná hemoragická

  1. Subject h.teleangiektázia dedičná hemoragická
    Subject h.Telangiectasia, Hereditary Hemorrhagic
    Entry termsteleangiektázia hereditárna hemoragická
    Oslerova choroba
    Oslerova-Renduova choroba
    Oslerova-Renduova-Weberova choroba
    Oslerova-Weberova-Renduova choroba
    Renduova-Oslerova-Weberova choroba
    teleangiektázia hereditárna hemoragická, typ 1
    Renduova-Oslerova-Weberova dedičná hemoragická teleangiektázia
    Weberova-Oslerova choroba
    Weberov-Oslerov syndróm
    English X referencesOsler-Rendu Disease
    Rendu-Osler-Weber Disease
    Weber-Osler Disease
    Weber-Osler Syndrome
    Scope note in EnglishAn autosomal dominant vascular anomaly characterized by telangiectases of the skin and mucous membranes and by recurrent gastrointestinal bleeding. This disorder is caused by mutations of a gene (on chromosome 9q3) which encodes endoglin, a membrane glycoprotein that binds TRANSFORMING GROWTH FACTOR BETA.
    Links (13) - ARTICLES
    (1) - MeSH descriptor
    (2) - CiBaMed
    (2) - BOOKS
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Number of the records: 1  

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