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Article

RASA1 phenotype overlaps with hereditary haemorrhagic telangiectasia: two case reports.

Journal of medical genetics - 1 Sept 2021

El Hajjam Mostafa, Mekki Ahmed, Palmyre Aurelien, Eyries Melanie, Soubrier Florent, Bourgault Villada Isabelle, Ozanne Augustin, Carlier Robert Yves, Chinet Thierry

Abstract excerpt

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...

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Identifiers

PMID: 32900839
DOI: 10.1136/jmedgenet-2019-106792

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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