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

• Asıl Yazarlar: Tanya Kadiyska (Yazar), Alexander Nossikoff (Yazar), Pencho Kratunkov (Yazar), Mary Hachmerian (Yazar), Ludmila Angelova (Yazar)
• Materyal Türü: Kitap
• Baskı/Yayın Bilgisi: Wolters Kluwer Medknow Publications, 2016-01-01T00:00:00Z.
• Konular: article
• Online Erişim: 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...