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
Brachyolmia, dental anomalies and short stature (DASS): Phenotype and genotype analyses of Egyptian and Pakistani patients.
Nawaz H et al.
Heliyon, 2024
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
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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