Article
The spectrum of FBN1, TGFβR1, TGFβR2 and ACTA2 variants in 594 individuals with suspected Marfan Syndrome, Loeys-Dietz Syndrome or Thoracic Aortic Aneurysms and Dissections (TAAD).
Molecular genetics and metabolism - 1 Jun 2014
Lerner-Ellis Jordan P, Aldubayan Saud H, Hernandez Amy Lovelette, Kelly Melissa Allard, Stuenkel Aaron J, Walsh Jennifer, Joshi Victoria A
Abstract excerpt
INTRODUCTION: In this study, patients suspected of having a clinical diagnosis of Marfan Syndrome (MFS), Loeys-Dietz Syndrome (LDS) and Thoracic Aortic Aneurysms and Dissections (TAAD) were referred for genetic testing and examined for mutations in the FBN1, TGFβR1, TGFβR2 and ACTA2 genes. METHODS: We examined 594 samples from unrelated individuals and different combinations of genes were sequenced, including one...
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