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dc.contributor.authorSmith, M
dc.contributor.authorBeetz, C
dc.contributor.authorWilliams, S
dc.contributor.authorBhaskar, S
dc.contributor.authorO'Sullivan, J
dc.contributor.authorAnderson, B
dc.contributor.authorDaly, S
dc.contributor.authorUrquhart, J
dc.contributor.authorBholah, Z
dc.contributor.authorOudit, Deemesh
dc.contributor.authorCheesman, E
dc.contributor.authorKelsey, A
dc.contributor.authorMcCabe, Martin
dc.contributor.authorNewman, W
dc.contributor.authorEvans, D
dc.date.accessioned2014-11-27T09:53:21Z
dc.date.available2014-11-27T09:53:21Z
dc.date.issued2014-11-17
dc.identifier.citationGermline Mutations in SUFU Cause Gorlin Syndrome-Associated Childhood Medulloblastoma and Redefine the Risk Associated With PTCH1 Mutations. 2014: J Clin Oncolen
dc.identifier.issn1527-7755
dc.identifier.pmid25403219
dc.identifier.doi10.1200/JCO.2014.58.2569
dc.identifier.urihttp://hdl.handle.net/10541/336215
dc.description.abstractHeterozygous 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.
dc.languageENG
dc.language.isoenen
dc.rightsArchived with thanks to Journal of clinical oncology : official journal of the American Society of Clinical Oncologyen
dc.titleGermline mutations in SUFU cause Gorlin Syndrome-associated childhood medulloblastoma and redefine the risk associated With PTCH1 mutations.en
dc.typeArticleen
dc.contributor.departmentManchester Centre for Genomic Medicine, University of Manchester, Manchester Academic Health Sciences Centre, and Central Manchester University Hospitals National Health Service (NHS) Foundation Trusten
dc.identifier.journalJournal of Clinical Oncologyen
html.description.abstractHeterozygous 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.


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