Associated Papers
GA4GH phenopacket-driven characterization of genotype-phenotype correlations in Mendelian disorders.
Rekerle L et al.
American Journal of Human Genetics, 2026
41443197 (PubMed )
Supplement: mmc1.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
Digenic/multilocus aetiology of multiple self-healing squamous epithelioma (Ferguson-Smith disease): TGFBR1 and a second linked locus.
Ferguson-Smith MA et al.
The International Journal of Biochemistry & Cell Biology, 2014
Rare variations in IL36RN in severe adverse drug reactions manifesting as acute generalized exanthematous pustulosis.
Navarini AA et al.
The Journal of Investigative Dermatology, 2013
Multiple self-healing squamous epithelioma (MSSE): rare variants in an adjacent region of chromosome 9q22.3 to known TGFBR1 mutations suggest a digenic or multilocus etiology.
Kang HC et al.
The Journal of Investigative 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
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