Number of the records: 1  

Alagillov syndróm

  1. HesloAlagillov syndróm
    Heslo anglickyAlagille Syndrome
    OdkazyAlagilleho syndróm
    Alagilleov syndróm
    dysplázia hepatálnych artérií
    dysplázia artériohepatálna
    Angl. X odkazyArteriohepatic Dysplasia
    Dysplasia, Arteriohepatic
    Vysvetľujúca pozn. v angl.A multisystem disorder that is characterized by aplasia of intrahepatic bile ducts (BILE DUCTS, INTRAHEPATIC), and malformations in the cardiovascular system, the eyes, the vertebral column, and the facies. Major clinical features include JAUNDICE, and congenital heart disease with peripheral PULMONARY STENOSIS. Alagille syndrome may result from heterogeneous gene mutations, including mutations in JAG1 on CHROMOSOME 20 (Type 1) and NOTCH2 on CHROMOSOME 1 (Type 2).
    Odkazy (3) - ČLÁNKY
    (1) - KNIHY
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Number of the records: 1  

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