Recurrent CYLD nonsense mutation associated with a severe, disfiguring phenotype in an African American family with multiple familial trichoepithelioma

Abstrakt

Recently, Kazakov et al permormed a clinicopathologic and genotypic analysis on a series of 16 patients suffering from multiple (familial) trichoepitheliomas (MFT: MIM 601606) and found mutations in the CYLD gene in 46%.

Klíčová slova

• CYLD nonsense mutation
• multiple familial trichoepithelioma