Article
Seven cases of hereditary haemorrhagic telangiectasia-like hepatic vascular abnormalities associated with EPHB4 pathogenic variants.
Journal of medical genetics - 1 Sept 2023
Guilhem Alexandre, Dupuis-Girod Sophie, Espitia Olivier, Rivière Sophie, Seguier Julie, Kerjouan Mallorie, Lavigne Christian, Maillard Hélène, Magro Pascal, Alric Laurent, Lipsker Dan, Parrot Antoine, Leguy Vanessa, Vanlemmens Claire, Guibaud Laurent, Vikkula Miikka, Eyries Melanie, Valette Pierre-Jean, Giraud Sophie
Abstract excerpt
BACKGROUND: EPHB4 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. METHODS: Members of the French HHT...
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