Article

Family Phenotypic Profile in Hereditary Hemorrhagic Telangiectasia: Genotype-Phenotype Correlation in the Pediatric Population

2024-08-07

Abstract excerpt

<title>Abstract</title> <p>Hereditary Hemorrhagic Telangiectasia (HHT) is a rare, hereditary, autosomal dominant vascular disease, characterized by arteriovenous malformations (AVM), mucocutaneous telangiectasias and epistaxis. The management of pediatric patients is currently based on limited literature. The aim of our study is to evaluate whether the severity of HHT in affected children could be compared to the...

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Literature Corpus work: fedb88cf-2e18-537a-bb06-79fbba94bd6f
DOI: 10.21203/rs.3.rs-4685890/v1

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