Clinical and genetic challenges in a family with history of childhood polyp, aortopathy, and clinical diagnosis of hereditary hemorrhagic teleangiectasia (HHT)

• Main Authors: Tanya Kadiyska (Author), Alexander Nossikoff (Author), Pencho Kratunkov (Author), Mary Hachmerian (Author), Ludmila Angelova (Author)
• Formato: Livro
• Publicado em: Wolters Kluwer Medknow Publications, 2016-01-01T00:00:00Z.
• Assuntos: article
• Acesso em linha: Connect to this object online.

Hereditary hemorrhagic teleangiectasia (HHT) is a genetic disorder, characterized by abnormal vessel formation and arteriovenous malformations (AVMs). The so-called "Curaçao criteria" are most commonly employed for the purposes of clinical diagnosis. However, children may not exhibit the...