Associated Papers
Understanding genomic medicine for thoracic aortic disease through the lens of induced pluripotent stem cells.
Singh AA et al.
Frontiers in Cardiovascular Medicine, 2024
Variable clinical expression of a Belgian TGFB3 founder variant suggests the presence of a genetic modifier.
Perik MHAM et al.
Frontiers in Genetics, 2023
Generation of a human TGFB3-hIPSC line, BBANTWi010-A, from a Loeys-Dietz syndrome type V patient.
Perik M et al.
Stem Cell Research, 2022
Homozygous deletion of exons 2-7 within TGFB3 gene in a child with severe Loeys-Dietz syndrome and Marfan-like features.
Mégarbané A et al.
American Journal of Medical Genetics. Part A, 2020
A mutation update on the LDS-associated genes TGFB2/3 and SMAD2/3.
Schepers D et al.
Human Mutation, 2018
Repeat genetic testing with targeted capture sequencing in primary arrhythmia syndrome and cardiomyopathy.
Robyns T et al.
European Journal of Human Genetics : Ejhg, 2017
Mutations in a TGF-β ligand, TGFB3, cause syndromic aortic aneurysms and dissections.
Bertoli-Avella AM et al.
Journal of the American College of Cardiology, 2015
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