Associated Papers
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
Identification and in silico analyses of novel TGFBR1 and TGFBR2 mutations in Marfan syndrome-related disorders.
Mátyás G et al.
Human Mutation, 2006
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