Literature DB >> 10792569

Brooke-Spiegler syndrome locus assigned to 16q12-q13.

C Fenske, P Banerjee, C Holden, N Carter.   

Abstract

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Year:  2000        PMID: 10792569     DOI: 10.1046/j.1523-1747.2000.00960.x

Source DB:  PubMed          Journal:  J Invest Dermatol        ISSN: 0022-202X            Impact factor:   8.551


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  4 in total

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3.  The CYLD p.R758X worldwide recurrent nonsense mutation detected in patients with multiple familial trichoepithelioma type 1, Brooke-Spiegler syndrome and familial cylindromatosis represents a mutational hotspot in the gene.

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Journal:  BMC Genet       Date:  2016-02-09       Impact factor: 2.797

4.  Tumor mapping in 2 large multigenerational families with CYLD mutations: implications for disease management and tumor induction.

Authors:  Neil Rajan; James A A Langtry; Alan Ashworth; Catherine Roberts; Pam Chapman; John Burn; Alison H Trainer
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