Seven cases of hereditary haemorrhagic telangiectasia-like hepatic vascular abnormalities associated...
Seven cases of hereditary haemorrhagic telangiectasia-like hepatic vascular abnormalities associated with EPHB4 pathogenic variants
About this item
Full title
Author / Creator
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 and Giraud, Sophie
Publisher
England: BMJ Publishing Group Ltd
Journal title
Language
English
Formats
Publication information
Publisher
England: BMJ Publishing Group Ltd
Subjects
More information
Scope and Contents
Contents
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...
Alternative Titles
Full title
Seven cases of hereditary haemorrhagic telangiectasia-like hepatic vascular abnormalities associated with EPHB4 pathogenic variants
Authors, Artists and Contributors
Author / Creator
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
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_hal_primary_oai_HAL_hal_04886453v1
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_hal_primary_oai_HAL_hal_04886453v1
Other Identifiers
ISSN
0022-2593
E-ISSN
1468-6244
DOI
10.1136/jmg-2022-109107
