Pathogenic effect of a TGFBR1 mutation in a family with Loeys–Dietz syndrome
Abstract
Background Thoracic aortic aneurysms and dissections (TAAD) may have a heritable cause in up to 20% of cases. We aimed to investigate the pathogenic effect of a TGFBR1 mutation in relation to TAAD. Methods Co‐segregation analysis was performed followed by functional investigations, including myogenic transdifferentiation. Results The c.1043G>A TGFBR1 mutation was found in the index patient, in a deceased brother, and in five presymptomatic...
Paper Details
Title
Pathogenic effect of a TGFBR1 mutation in a family with Loeys–Dietz syndrome
Published Date
Sep 1, 2019
Volume
7
Issue
10
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