Multiple self-healing squamous epithelioma is caused by a disease-specific spectrum of mutations in TGFBR1.

doi:10.1038/ng.780

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Article

Multiple self-healing squamous epithelioma is caused by a disease-specific spectrum of mutations in TGFBR1.

Nature genetics - 27 Feb 2011

Goudie David R, D'Alessandro Mariella, Merriman Barry, Lee Hane, Szeverényi Ildikó, Avery Stuart, O'Connor Brian D, Nelson Stanley F, Coats Stephanie E, Stewart Arlene, Christie Lesley, Pichert Gabriella, Friedel Jean, Hayes Ian, Burrows Nigel, Whittaker Sean, Gerdes Anne-Marie, Broesby-Olsen Sigurd, Ferguson-Smith Malcolm A, Verma Chandra, Lunny Declan P, Reversade Bruno, Lane E Birgitte

Abstract excerpt

Multiple self-healing squamous epithelioma (MSSE), also known as Ferguson-Smith disease (FSD), is an autosomal-dominant skin cancer condition characterized by multiple squamous-carcinoma-like locally invasive skin tumors that grow rapidly for a few weeks before spontaneously regressing, leaving scars. High-throughput genomic sequencing of a conservative estimate (24.2 Mb) of the disease locus on chromosome 9...

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Identifiers

PMID: 21358634
DOI: 10.1038/ng.780

Genes

TGFBR1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

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Multiple self-healing squamous epithelioma is caused by a disease-specific spectrum of mutations in TGFBR1.PMID 21358634Read ↗

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