Article
Genetic Testing in CYLD Cutaneous Syndrome: An Update
1 Oct 2021
Abstract excerpt
Abstract: CYLD cutaneous syndrome (CCS) is an inclusive label for the inherited skin adnexal tumour syndromes Brooke–Spiegler Syndrome (BSS-OMIM 605041), familial cylindromatosis (FC – OMIM 132700) and multiple familial trichoepitheliomas (MFT-OMIM 601606). All three syndromes arise due to germline pathogenic variants in CYLD , a tumour suppressor gene (OMIM 605018). CCS is transmitted in an autosomal dominant...
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