Article
Multiple (familial) trichoepitheliomas: a clinicopathological and molecular biological study, including CYLD and PTCH gene analysis, of a series of 16 patients.
The American Journal of dermatopathology - 1 May 2011
Kazakov Dmitry V, Vanecek Tomas, Zelger Bernhard, Carlson J Andrew, Spagnolo Dominic V, Schaller Jörg, Nemcova Jana, Kacerovska Denisa, Vazmitel Marina, Sangüeza Martin, Emberger Michael, Belousova Irena, Fernandez-Figueras Maria Tereza, Fernandez-Figueraz Maria Tereza, Kempf Werner, Meyer Dale R, Rütten Arno, Baltaci Mehmet, Michal Michal
Abstract excerpt
Multiple familial trichoepitheliomas (MFT) constitute an autosomally inherited syndrome possibly related to Brooke-Spiegler syndrome (BSS). Although some early studies suggested a role for the PTCH gene on chromosome 9q22.3 in the etiopathogenesis of MFT, recent studies of occasional patients with the MFT clinical phenotype identified mutations in the CYLD gene on chromosome 16q12-q13, a gene responsible for BSS....
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