RASA1 phenotype overlaps with hereditary haemorrhagic telangiectasia: two case reports
Abstract
Background We report two cases of RASA1-related capillary malformation-arteriovenous malformation (CM-AVM1) syndrome mimicking hereditary haemorrhagic telangiectasia (HHT).Methods and results A 28-year-old man, previously embolised for cerebral arteriovenous malformations (AVMs), presented with epistaxis and typical nasal telangiectasias of HHT. CT scan revealed a large portocaval shunt. The second patient was a 9-year-old girl presenting with...
Paper Details
Title
RASA1 phenotype overlaps with hereditary haemorrhagic telangiectasia: two case reports
Published Date
Sep 8, 2020
Journal
Volume
58
Issue
9
Pages
645 - 647
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