Associated Papers
Aortic and arterial manifestations and clinical features in TGFB3-related heritable thoracic aortic disease: results from the Montalcino Aortic Consortium.
Lim MS et al.
Journal of Medical Genetics, 2025
Analysis of exome data in a UK cohort of 603 patients with syndromic orofacial clefting identifies causal molecular pathways.
Wilson K et al.
Human Molecular Genetics, 2023
37010288 (PubMed )
Supplement: supptables_hmg-2022-ce-00520-r1_wilson_without_id_ddad023.xlsx › S4
Retinal detachment in Loeys-Dietz syndrome.
Maghsoudi D et al.
American Journal of Medical Genetics. Part A, 2023
Novel Mutation of the TGF-β 3 Protein (Loeys-Dietz Type 5) Associated With Aortic and Carotid Dissections: Case Report.
Hussein D et al.
Neurology. Genetics, 2021
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
Results of next-generation sequencing gene panel diagnostics including copy-number variation analysis in 810 patients suspected of heritable thoracic aortic disorders.
Overwater E et al.
Human Mutation, 2018
A mutation update on the LDS-associated genes TGFB2/3 and SMAD2/3.
Schepers D et al.
Human Mutation, 2018
High diagnostic yield of clinically unidentifiable syndromic growth disorders by targeted exome sequencing.
Kim YM et al.
Clinical Genetics, 2017
Exome sequencing identifies a novel heterozygous TGFB3 mutation in a disorder overlapping with Marfan and Loeys-Dietz syndrome.
Kuechler A et al.
Molecular and Cellular Probes, 2015
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
De novo mutation of the latency-associated peptide domain of TGFB3 in a patient with overgrowth and Loeys-Dietz syndrome features.
Matyas G et al.
American Journal of Medical Genetics. Part A, 2014
Response to "De novo mutation of the TGFB3 latency-associated peptide domain in a patient with overgrowth and Loeys-Dietz syndrome features".
Rienhoff HY
American Journal of Medical Genetics. Part A, 2014
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