Seven cases of hereditary haemorrhagic telangiectasia-like hepatic vascular abnormalities associated with EPHB4 pathogenic variants.
Alexandre GuilhemSophie Dupuis-GirodOlivier EspitiaSophie RivièreJulie SeguierMallorie KerjouanChristian LavigneHélène MaillardPascal MagroLaurent AlricDan LipskerAntoine ParrotVanessa LeguyClaire VanlemmensLaurent GuibaudMiikka VikkulaMelanie EyriesPierre-Jean ValetteSophie GiraudPublished in: Journal of medical genetics (2023)
loss-of-function variants can be associated with HHT-like hepatic abnormalities and should be tested for atypical HHT presentations.