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

Petr Grossmann, 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

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Medicine & Life Sciences