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dc.contributor.authorEvans, D
dc.contributor.authorOudit, Deemesh
dc.contributor.authorSmith, M
dc.contributor.authorRutkowski, D
dc.contributor.authorAllan, Ernest
dc.contributor.authorNewman, W
dc.contributor.authorLear, J
dc.date.accessioned2017-07-13T10:45:58Z
dc.date.available2017-07-13T10:45:58Z
dc.date.issued2017-06-08
dc.identifier.citationFirst evidence of genotype-phenotype correlations in Gorlin syndrome. 2017 J Med Geneten
dc.identifier.issn1468-6244
dc.identifier.pmid28596197
dc.identifier.doi10.1136/jmedgenet-2017-104669
dc.identifier.urihttp://hdl.handle.net/10541/620443
dc.description.abstractGorlin syndrome (GS) is an autosomal dominant syndrome characterised by multiple basal cell carcinomas (BCCs) and an increased risk of jaw cysts and early childhood medulloblastoma. Heterozygous germline variants in PTCH1 and SUFU encoding components of the Sonic hedgehog pathway explain the majority of cases. Here, we aimed to delineate genotype-phenotype correlations in GS.
dc.language.isoenen
dc.rightsArchived with thanks to Journal of medical geneticsen
dc.titleFirst evidence of genotype-phenotype correlations in Gorlin syndrome.en
dc.typeArticleen
dc.contributor.departmentDivision of Evolution and Genomic Science, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchesteren
dc.identifier.journalJournal of Medical Geneticsen
html.description.abstractGorlin syndrome (GS) is an autosomal dominant syndrome characterised by multiple basal cell carcinomas (BCCs) and an increased risk of jaw cysts and early childhood medulloblastoma. Heterozygous germline variants in PTCH1 and SUFU encoding components of the Sonic hedgehog pathway explain the majority of cases. Here, we aimed to delineate genotype-phenotype correlations in GS.


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