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dc.contributor.authorBowen, Sarah
dc.contributor.authorGill, Melissa
dc.contributor.authorLee, David A
dc.contributor.authorFisher, Galen
dc.contributor.authorGeronemus, Roy G
dc.contributor.authorVazquez, Marialuisa Espinel
dc.contributor.authorCelebi, Julide Tok
dc.date.accessioned2022-11-02T17:20:36Z
dc.date.available2022-11-02T17:20:36Z
dc.identifier.citationBowen S, Gill M, Lee DA, Fisher G, Geronemus RG, Vazquez ME, Celebi JT. Mutations in the CYLD gene in Brooke-Spiegler syndrome, familial cylindromatosis, and multiple familial trichoepithelioma: lack of genotype-phenotype correlation. J Invest Dermatol. 2005 May;124(5):919-20. doi: 10.1111/j.0022-202X.2005.23688.x. PMID: 15854031.en_US
dc.identifier.issn0022-202X
dc.identifier.pmid15854031
dc.identifier.urihttp://hdl.handle.net/20.500.12648/7844
dc.description.abstractBrooke-Spiegler syndrome (BSS), familial cylindromatosis (FC), and multiple familial trichoepithelioma (MFT), originally described as distinct entities, share overlapping clinical findings. Patients with BSS are predisposed to multiple skin appendage tumors such as cylindroma, trichoepithelioma, and spiradenoma. FC, however, is characterized by cylindromas and MFT by trichoepitheliomas as the only tumor type. These disorders have recently been associated with mutations in the CYLD gene. In this report, we describe three families with BSS, one with FC, and two with MFT phenotypes associated with novel and recurrent mutations in CYLD. We provide evidence that these disorders represent phenotypic variation of a single entity and lack genotype-phenotype correlation.en_US
dc.language.isoenen_US
dc.relation.urlhttps://www.jidonline.org/article/S0022-202X(15)32255-7/fulltexten_US
dc.rightsAttribution-NonCommercial-NoDerivatives 4.0 International*
dc.rights.urihttp://creativecommons.org/licenses/by-nc-nd/4.0/*
dc.titleMutations in the CYLD gene in Brooke-Spiegler syndrome, familial cylindromatosis, and multiple familial trichoepithelioma: lack of genotype-phenotype correlation.en_US
dc.typeArticle/Reviewen_US
dc.source.journaltitleThe Journal of investigative dermatologyen_US
dc.source.volume124
dc.source.issue5
dc.source.beginpage919
dc.source.endpage20
dc.source.countryUnited States
dc.description.versionVoRen_US
refterms.dateFOA2022-11-02T17:20:38Z
dc.description.institutionSUNY Downstateen_US
dc.description.departmentPathologyen_US
dc.description.degreelevelN/Aen_US
dc.identifier.journalThe Journal of investigative dermatology


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Attribution-NonCommercial-NoDerivatives 4.0 International
Except where otherwise noted, this item's license is described as Attribution-NonCommercial-NoDerivatives 4.0 International