Seven cases of hereditary haemorrhagic telangiectasia-like hepatic vascular abnormalities associated with EPHB4 pathogenic variants
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DOI: 10.1136/jmg-2022-109107
Abstract: 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… read more here.
Keywords: hereditary haemorrhagic; like hepatic; hht; haemorrhagic telangiectasia ... See more keywords