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
Amelogenesis imperfecta: Next-generation sequencing sheds light on Witkop's classification.
Bloch-Zupan A et al.
Frontiers in Physiology, 2023
Novel LTBP3 mutations associated with thoracic aortic aneurysms and dissections.
Zhu G et al.
Orphanet Journal of Rare Diseases, 2021
A Rare Case of Brachyolmia with Amelogenesis Imperfecta Caused by a New Pathogenic Splicing Variant in LTBP3.
Flex E et al.
Genes, 2021
Overexpression of miR-1306-5p, miR-3195, and miR-3914 Inhibits Ameloblast Differentiation through Suppression of Genes Associated with Human Amelogenesis Imperfecta.
Yoshioka H et al.
International Journal of Molecular Sciences, 2021
33672174 (PubMed )
Supplement: ijms-22-02202-s001.zip › Supplementary_Table_S4-1_Final_021921.xlsx › Table_S3.1
Genotype-phenotype correlation and expansion of orodental anomalies in LTBP3-related disorders.
Intarak N et al.
Molecular Genetics and Genomics : Mgg, 2019
Mutations in the latent TGF-beta binding protein 3 (LTBP3) gene cause brachyolmia with amelogenesis imperfecta.
Huckert M et al.
Human Molecular Genetics, 2015
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