Novel variants in the ACTA2 and MYH11 genes in a Cypriot family with thoracic aortic aneurysms: a case report

• 主要な著者: Anna Keravnou (著者), Evy Bashiardes (著者), Kyriaki Michailidou (著者), Marinos Soteriou (著者), Areti Moushi (著者), Marios Cariolou (著者)
• フォーマット: 図書
• 出版事項: BMC, 2018-12-01T00:00:00Z.
• 主題: article
• オンライン･アクセス: Connect to this object online.

Abstract Background Thoracic aortic aneurysm (TAA) and/or thoracic aortic aneurysm and dissection (TAAD) is characterized by a considerable risk of morbidity and mortality of affected individuals. It is inherited in an autosomal dominant pattern and the 20% of patients with non-syndromic TAA have a...