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  • En autosomalt dominant karsykdom karakterisert ved telangiektasier (utvidede små blodårer) i hud og slimhinner og tilbakevendende tarmblødning. Tilstanden skyldes mutasjoner av et gen (på kromosom 9q3) som koder endoglin, et membran-glykoprotein som binder transformerende vekstfaktor beta (transforming growth factor beta).
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