The spectrum of FBN1, TGFÎ²R1, TGFÎ²R2 and ACTA2 variants in 594 individuals with suspected Marfan Syndrome, Loeys-Dietz Syndrome or Thoracic Aortic Aneurysms and Dissections (TAAD)

Article ID	Journal	Published Year	Pages	File Type
10833573	Molecular Genetics and Metabolism	2014	6 Pages	PDF

Abstract

This study reveals the rate of detection of variants in several genes associated with MFS, LDS and TAAD. The evaluation of patients by individuals with expertise in the field may decrease the likelihood of ordering unnecessary molecular testing. Nevertheless, genetic testing supports the diagnosis of MFS, LDS and TAAD.

Keywords

FBN1 Loeys–Dietz syndrome aortic aneurysms Marfan Syndrome

Related Topics

Life Sciences Biochemistry, Genetics and Molecular Biology Biochemistry

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The spectrum of FBN1, TGFÎ²R1, TGFÎ²R2 and ACTA2 variants in 594 individuals with suspected Marfan Syndrome, Loeys-Dietz Syndrome or Thoracic Aortic Aneurysms and Dissections (TAAD)

Authors

Jordan P. Lerner-Ellis, Saud H. Aldubayan, Amy Lovelette Hernandez, Melissa Allard Kelly, Aaron J. Stuenkel, Jennifer Walsh, Victoria A. Joshi,