Article
A case of Brooke-Spiegler syndrome with a novel germline deep intronic mutation in the CYLD gene leading to intronic exonization, diverse somatic mutations, and unusual histology.
The American Journal of dermatopathology - 1 Oct 2009
Kazakov Dmitry V, Thoma-Uszynski Sybilla, Vanecek Tomas, Kacerovska Denisa, Grossmann Petr, Michal Michal
Abstract excerpt
We present a case of Brooke-Spiegler syndrome with a germline deep intronic mutation in the CYLD gene leading to intronic exonization. Additionally, diverse somatic mutations were identified, namely loss of heterozygosity, a recurrent nonsense mutation, and a sequence mutation causing exon skipping. These somatic aberrations were identified in 4 different cylindromas that had been removed from the patient....
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