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...
Main Authors: | , , |
---|---|
Format: | Article |
Language: | English |
Published: |
MDPI AG
2023-02-01
|
Series: | Pediatric Reports |
Subjects: | |
Online Access: | https://www.mdpi.com/2036-7503/15/1/11 |