Associated Papers
Digenic impairments of haploinsufficient genes in patients with craniosynostosis.
Yu JW et al.
Jci Insight, 2025
39989454 (PubMed )
Supplement: jciinsight-10-176985-s042.pdf
Features of multiple self-healing squamous epithelioma and Loeys-Dietz syndrome in a patient with a novel TGFBR1 variant.
Sirisomboonwong KE et al.
American Journal of Medical Genetics. Part A, 2018
Multiple self-healing squamous epithelioma is caused by a disease-specific spectrum of mutations in TGFBR1.
Goudie DR et al.
Nature Genetics, 2011
Analysis of multigenerational families with thoracic aortic aneurysms and dissections due to TGFBR1 or TGFBR2 mutations.
Tran-Fadulu V et al.
Journal of Medical Genetics, 2009
Select a paper to view details