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Brooke-Spiegler syndrome

MIM.605041

Friday 3 March 2017

Brooke-Spiegler syndrome (BRSS) is caused by heterozygous mutation in the CYLD gene (MIM.605018) on chromosome 16q12.

Allelic disorders include familial cylindromatosis (MIM.132700) and multiple familial trichoepithelioma-1 (MFT1; MIM.601606), which show overlapping phenotypes.