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    Germline mutations in SUFU cause Gorlin Syndrome-associated childhood medulloblastoma and redefine the risk associated With PTCH1 mutations.

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    Authors
    Smith, M
    Beetz, C
    Williams, S
    Bhaskar, S
    O'Sullivan, J
    Anderson, B
    Daly, S
    Urquhart, J
    Bholah, Z
    Oudit, Deemesh
    Cheesman, E
    Kelsey, A
    McCabe, Martin
    Newman, W
    Evans, D
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    Affiliation
    Manchester Centre for Genomic Medicine, University of Manchester, Manchester Academic Health Sciences Centre, and Central Manchester University Hospitals National Health Service (NHS) Foundation Trust
    Issue Date
    2014-11-17
    
    Metadata
    Show full item record
    Abstract
    Heterozygous germline PTCH1 mutations are causative of Gorlin syndrome (naevoid basal cell carcinoma), but detection rates > 70% have rarely been reported. We aimed to define the causative mutations in individuals with Gorlin syndrome without PTCH1 mutations.
    Citation
    Germline Mutations in SUFU Cause Gorlin Syndrome-Associated Childhood Medulloblastoma and Redefine the Risk Associated With PTCH1 Mutations. 2014: J Clin Oncol
    Journal
    Journal of Clinical Oncology
    URI
    http://hdl.handle.net/10541/336215
    DOI
    10.1200/JCO.2014.58.2569
    PubMed ID
    25403219
    Type
    Article
    Language
    en
    ISSN
    1527-7755
    ae974a485f413a2113503eed53cd6c53
    10.1200/JCO.2014.58.2569
    Scopus Count
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