Seven cases of hereditary haemorrhagic telangiectasia-like hepatic vascular abnormalities associated with pathogenic variants.
Fiche publication
Date publication
février 2023
Journal
Journal of medical genetics
Auteurs
Membres identifiés du Cancéropôle Est :
Pr LIPSKER Dan
Tous les auteurs :
Guilhem A, Dupuis-Girod S, Espitia O, Rivière S, Seguier J, Kerjouan M, Lavigne C, Maillard H, Magro P, Alric L, Lipsker D, Parrot A, Leguy V, Vanlemmens C, Guibaud L, Vikkula M, Eyries M, Valette PJ, Giraud S
Lien Pubmed
Résumé
loss of function is associated with type 2 capillary malformation-arteriovenous malformation syndrome, an autosomal dominant vascular disorder. The phenotype partially overlaps with hereditary haemorrhagic telangiectasia (HHT) due to epistaxis, telangiectases and cerebral arteriovenous malformations, but a similar liver involvement has never been described.
Mots clés
Cardiovascular Abnormalities, Liver Diseases, Phenotype
Référence
J Med Genet. 2023 02 22;: