First evidence of genotype-phenotype correlations in Gorlin syndrome.
Affiliation
Division of Evolution and Genomic Science, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, ManchesterIssue Date
2017-06-08
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Gorlin 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.Citation
First evidence of genotype-phenotype correlations in Gorlin syndrome. 2017 J Med GenetJournal
Journal of Medical GeneticsDOI
10.1136/jmedgenet-2017-104669PubMed ID
28596197Type
ArticleLanguage
enISSN
1468-6244ae974a485f413a2113503eed53cd6c53
10.1136/jmedgenet-2017-104669
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