Additional file 1: of The CYLD p.R758X worldwide recurrent nonsense mutation detected in patients with multiple familial trichoepithelioma type 1, Brooke-Spiegler syndrome and familial cylindromatosis represents a mutational hotspot in the gene

Sequencing data of Patient III/1 demonstrated the same heterozygous mutation, which has been detected in case of Patient II/2. (JPG 163 kb)