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J Med Genet. 2005 November; 42(11): 811–819.
PMCID: PMC1735949

Genetics of skin appendage neoplasms and related syndromes


In the past decade the molecular basis of many inherited syndromes has been unravelled. This article reviews the clinical and genetic aspects of inherited syndromes that are characterised by skin appendage neoplasms, including Cowden syndrome, Birt–Hogg–Dube syndrome, naevoid basal cell carcinoma syndrome, generalised basaloid follicular hamartoma syndrome, Bazex syndrome, Brooke–Spiegler syndrome, familial cylindromatosis, multiple familial trichoepitheliomas, and Muir–Torre syndrome.

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