Associated Papers
Variability, asymmetry and sexual dimorphism in craniofacial anomalies in Loeys-Dietz syndrome 2: geometric morphometric analysis in mice.
Devine KR et al.
Scientific Reports, 2026
41519957 (PubMed )
Supplement: 41598_2026_35325_MOESM1_ESM.pdf
Distinctive Amelogenesis Imperfecta in Loeys-Dietz Syndrome Type II.
Duverger O et al.
Journal of Dental Research, 2025
Loeys-Dietz and Shprintzen-Goldberg syndromes: analysis of TGF-β-opathies with craniofacial manifestations using an innovative multimodality method.
Almpani K et al.
Journal of Medical Genetics, 2022
34916229 (PubMed )
Supplement: jmedgenet-2021-107695supp001.pdf
Neonatal presentation of Loeys-Dietz syndrome: two case reports and review of the literature.
Baldo F et al.
Italian Journal of Pediatrics, 2022
Severity of oro-dental anomalies in Loeys-Dietz syndrome segregates by gene mutation.
Jani P et al.
Journal of Medical Genetics, 2020
Functional validation reveals the novel missense V419L variant in TGFBR2 associated with Loeys-Dietz syndrome (LDS) impairs canonical TGF-β signaling.
Cousin MA et al.
Cold Spring Harbor Molecular Case Studies, 2017
Arthrogryposis as neonatal presentation of Loeys-Dietz syndrome due to a novel TGFBR2 mutation.
Valenzuela I et al.
European Journal of Medical Genetics, 2017
Molecular modeling and molecular dynamic simulation of the effects of variants in the TGFBR2 kinase domain as a paradigm for interpretation of variants obtained by next generation sequencing.
Zimmermann MT et al.
Plos One, 2017
Genotype-phenotype analysis of F-helix mutations at the kinase domain of TGFBR2, including a type 2 Marfan syndrome familial study.
Zhang L et al.
Molecular Vision, 2012
Mutations of the TGFBR2 gene in Chinese patients with Marfan-related syndrome.
Chen J et al.
Clinical and Investigative Medicine. Medecine Clinique Et Experimentale, 2010
Progressive aortic root and pulmonary artery aneurysms in a neonate with Loeys-Dietz syndrome type 1B.
Muramatsu Y et al.
American Journal of Medical Genetics. Part A, 2010
Recent progress in genetics of Marfan syndrome and Marfan-associated disorders.
Mizuguchi T et al.
Journal of Human Genetics, 2007
Aneurysm syndromes caused by mutations in the TGF-beta receptor.
Loeys BL et al.
The New England Journal of Medicine, 2006
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