학술논문
Iris Flocculi as an Ocular Marker of ACTA2 Mutation in Familial Thoracic Aortic Aneurysms and Dissections.
Document Type
Article
Source
Subject
*IRIS (Eye) diseases
*GENETIC mutation
*THORACIC aneurysms
*SMOOTH muscle
*HUMAN genes
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Language
ISSN
1381-6810
Abstract
Non-syndromic familial thoracic aortic aneurysms and dissections (TAAD) are inherited in an autosomal dominant manner. We report a missense mutation in the smooth muscle α-actin (ACTA2; MIM*102620) gene in a 3 generational family from Northern Ireland in which iris flocculi were an ocular marker of the disease. [ABSTRACT FROM AUTHOR]