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Many mutations have been identified in <jats:italic>ENG<\/jats:italic> and <jats:italic>ACVRL1<\/jats:italic> genes and support the haploinsufficiency model for HHT. Two more genes have recently been implicated in HHT: <jats:italic>MADH4<\/jats:italic> mutated in a combined syndrome of juvenile polyposis and HHT (JPHT), and an unidentified HHT3 gene linked to chromosome 5. Current knowledge on the genetics of HHT is summarised, including the pathways that link the genes responsible for HHT and the potential mechanisms underlying the pathogenesis of the disease.<\/jats:p>","DOI":"10.1136\/jmg.2005.030833","type":"journal-article","created":{"date-parts":[[2005,5,6]],"date-time":"2005-05-06T20:58:54Z","timestamp":1115413134000},"page":"97-110","source":"Crossref","is-referenced-by-count":315,"title":["Hereditary haemorrhagic telangiectasia: current views on genetics and mechanisms of disease"],"prefix":"10.1136","volume":"43","author":[{"given":"S 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