Two novel and one known mutation of the TGFBR2 gene in Marfan syndrome not associated with FBN1 gene defects

A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2

Bart Loeys, Junji Chen, Enid Neptune et al. · Nature Genetics · 2005 · 1.8K citations

Developmental Anomaly, Developmental Biology, Craniofacial Anomalies +9

Revised diagnostic criteria for the Marfan syndrome

Anne De Paepe, Richard B. Devereux, Harry C. Dietz et al. · American Journal of Medical Genetics · 1996 · 1.6K citations

Heterozygous TGFBR2 mutations in Marfan syndrome

Takeshi Mizuguchi, Gwenaëlle Collod‐Béroud, Takushi Akiyama et al. · Nature Genetics · 2004 · 612 citations · Full text

Marfan Syndrome, Mendelian Disorder, Genetic Disorder +4

Mutations in Transforming Growth Factor-β Receptor Type II Cause Familial Thoracic Aortic Aneurysms and Dissections

Hariyadarshi Pannu, Van Tran Fadulu, Jessica Chang et al. · Circulation · 2005 · 365 citations · Full text

Four Novel FBN1 Mutations: Significance for Mutant Transcript Level and EGF-like Domain Calcium Binding in the Pathogenesis of Marfan Syndrome

Harry C. Dietz, Iain McIntosh, Lynn Y. Sakai et al. · Genomics · 1993 · 304 citations · Full text