Associated Papers
Aortic root dilatation and mitral valve prolapse in three siblings with dental anomalies and short stature syndrome due to a homozygous novel LTBP3 variant.
Biçer BB et al.
Cardiology in the Young, 2025
Engineering of a high-fidelity Cas12a nuclease variant capable of allele-specific editing.
Wei J et al.
Plos Biology, 2024
38865309 (PubMed )
Supplement: pbio.3002680.s016.xlsx › ClinVar
The Impact of Genetic Variability of TGF-Beta Signaling Biomarkers in Major Craniofacial Syndromes.
Yapijakis C et al.
Advances in Experimental Medicine and Biology, 2023
Novel LTBP3 mutations associated with thoracic aortic aneurysms and dissections.
Zhu G et al.
Orphanet Journal of Rare Diseases, 2021
Genotype-phenotype correlation and expansion of orodental anomalies in LTBP3-related disorders.
Intarak N et al.
Molecular Genetics and Genomics : Mgg, 2019
Mutations in LTBP3 cause acromicric dysplasia and geleophysic dysplasia.
McInerney-Leo AM et al.
Journal of Medical Genetics, 2016
Mutations in the latent TGF-beta binding protein 3 (LTBP3) gene cause brachyolmia with amelogenesis imperfecta.
Huckert M et al.
Human Molecular Genetics, 2015
New recessive truncating mutation in LTBP3 in a family with oligodontia, short stature, and mitral valve prolapse.
Dugan SL et al.
American Journal of Medical Genetics. Part A, 2015
Oligodontia is caused by mutation in LTBP3, the gene encoding latent TGF-beta binding protein 3.
Noor A et al.
American Journal of Human Genetics, 2009
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