Associated Papers
Conserved missense variant pathogenicity and correlated phenotypes across paralogous genes.
Brünger T et al.
Genome Biology, 2025
40624578 (PubMed )
Supplement: 13059_2025_3663_MOESM2_ESM.xlsx › SupplementaryTable1
Genotype-Phenotype Correlation Insights Through Molecular Modeling Analysis in a Patient with Loeys-Dietz Syndrome.
Stathori G et al.
Genes, 2025
Heterozygous mutations in the straitjacket region of the latency-associated peptide domain of TGFB2 cause Camurati-Engelmann disease type II.
Wang Z et al.
Journal of Human Genetics, 2024
A mutation update on the LDS-associated genes TGFB2/3 and SMAD2/3.
Schepers D et al.
Human Mutation, 2018
Clinically relevant variants identified in thoracic aortic aneurysm patients by research exome sequencing.
Schubert JA et al.
American Journal of Medical Genetics. Part A, 2016
Further delineation of Loeys-Dietz syndrome type 4 in a family with mild vascular involvement and a TGFB2 splicing mutation.
Ritelli M et al.
Bmc Medical Genetics, 2014
Thoracic aortic-aneurysm and dissection in association with significant mitral valve disease caused by mutations in TGFB2.
Renard M et al.
International Journal of Cardiology, 2013
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