Article
Thoracic aortic aneurysm in patients with loss of function Filamin A mutations: Clinical characterization, genetics, and recommendations.
American journal of medical genetics. Part A - 1 Feb 2018
Chen Ming Hui, Choudhury Sangita, Hirata Mami, Khalsa Siri, Chang Bernard, Walsh Christopher A
Abstract excerpt
The frequency and gender distribution of thoracic aortic aneurysm as a cardiovascular manifestation of loss-of-function (LOF) X-linked FilaminA (FLNA) mutations are not known. Furthermore, there is very limited cardiovascular morbidity or mortality data in children and adults. We analyzed cardiac data on the largest series of 114 patients with LOF FLNA mutations, both children and adults, with periventricular...
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