Article

Novel EPHB4 mutation in capillary malformation-arteriovenous malformation syndrome 2 (CM-AVM2): the first genetic study in Asians

2020-08-18

Abstract excerpt

<title>Abstract</title> <p>Capillary malformation-arteriovenous malformation syndrome (CM-AVM), a rare vascular malformation, is autosomal dominant and characterized by hereditary capillary malformations (CMs) and potential fast-flow vascular malformation underlying CMs in around one-third of patients, affecting approximately 0.3-0.5% of newborns. CM-AVM was first discovered in association with germline RASA-1 mu...

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Literature Corpus work: aba4c9e2-00bf-5f73-ad3f-11e2079343ae
DOI: 10.21203/rs.3.rs-60236/v1

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