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
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 LTBP3 cause acromicric dysplasia and geleophysic dysplasia.
McInerney-Leo AM et al.
Journal of Medical Genetics, 2016
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
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