Seven cases of hereditary haemorrhagic telangiectasia-like hepatic vascular abnormalities associated with pathogenic variants.

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

https://www.ncbi.nlm.nih.gov/pubmed/36813543

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;: