Novel and recurrent germline and somatic mutations in a cohort of 67 patients from 48 families with Brooke-Spiegler syndrome including the phenotypic variant of multiple familial trichoepitheliomas and correlation with the histopathologic findings in 379 biopsy specimens.

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Published in Am J Dermatopathol on February 01, 2013

Authors

Petr Grossmann1, Tomas Vanecek, Petr Steiner, Denisa Kacerovska, Dominic V Spagnolo, Bernard Cribier, Christian Rose, Marina Vazmitel, J Andrew Carlson, Michael Emberger, Petr Martinek, Robert L Pearce, John Pearn, Michal Michal, Dmitry V Kazakov

Author Affiliations

1: Bioptical Laboratory, Pilsen, Czech Republic.

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