Seven cases of hereditary haemorrhagic telangiectasia-like hepatic vascular abnormalities associated with EPHB4 pathogenic variants
Alexandre Guilhem, Sophie Dupuis-Girod, Olivier Espitia, Sophie Rivière, Julie Seguier, Mallorie Kerjouan, Christian Lavigne, Hélène Maillard, Pascal Magro, Laurent Alric, Dan Lipsker, Antoine Parrot, Vanessa Leguy, Claire Vanlemmens, Laurent Guibaud, Miikka Vikkula, Melanie Eyries, Pierre-Jean Valette, Sophie Giraud
Journal of Medical Genetics Sep 2023, 60 (9) 905-909; DOI: 10.1136/jmg-2022-109107