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

• প্রধান লেখক: Cesare Danesino (Author), Claudia Cantarini (Author), Carla Olivieri (Author)
• বিন্যাস: গ্রন্থ
• প্রকাশিত: MDPI AG, 2023-02-01T00:00:00Z.
• বিষয়গুলি: article
• অনলাইন ব্যবহার করুন: Connect to this object online.

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...