Hereditary Hemorrhagic Telangiectasia in Pediatric Age: Focus on Genetics and Diagnosis

Hereditary Hemorrhagic Telangiectasia in Pediatric Age: Focus on Genetics and Diagnosis

Hereditary Hemorrhagic Telangiectasia (HHT) or Rendu–Osler–Weber Syndrome (ROW) is an autosomal dominant vascular disease, with an estimated prevalence of 1:5000. Genes associated with HHT are <i>ACVRL1</i>, <i>ENG</i>, <i>SMAD4</i>, and <i>GDF2</i>, a...

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Bibliographic Details
Main Authors: Cesare Danesino, Claudia Cantarini, Carla Olivieri
Format: Article
Language:English
Published: MDPI AG 2023-02-01
Series:Pediatric Reports
Subjects:
hereditary hemorrhagic telangiectasia
HHT
pediatric age
rare disease
Online Access:https://www.mdpi.com/2036-7503/15/1/11

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