Associated Papers
Intragenic EGFR::EGFR.E1E8 Fusion (EGFRvIII) in 4331 Solid Tumors.
Zheng L et al.
Cancers, 2023
38201434 (PubMed )
Supplement: cancers-16-00006-s001.zip › cancers-2545478-supplementary.pdf
Multiple Self-Healing Squamous Epithelioma (MSSE): A Digenic Trait Associated with Loss of Function Mutations in TGFBR1 and Variants at a Second Linked Locus on the Long Arm of Chromosome 9.
Goudie D
Genes, 2020
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
Inactivation of TGFβ receptors in stem cells drives cutaneous squamous cell carcinoma.
Cammareri P et al.
Nature Communications, 2016
27558455 (PubMed )
Supplement: ncomms12493-s16.xlsx › Supplementary_Data_Table_14
A puzzling case: SCC or not?
Simpkin S et al.
The Australasian Journal of Dermatology, 2013
Multiple self-healing squamous epithelioma is caused by a disease-specific spectrum of mutations in TGFBR1.
Goudie DR et al.
Nature Genetics, 2011
Natural mutations of the anti-Mullerian hormone type II receptor found in persistent Mullerian duct syndrome affect ligand binding, signal transduction and cellular transport.
Belville C et al.
Human Molecular Genetics, 2009
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