First evidence of genotype-phenotype correlations in Gorlin syndrome.
AffiliationDivision of Evolution and Genomic Science, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester
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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.
CitationFirst evidence of genotype-phenotype correlations in Gorlin syndrome. 2017 J Med Genet
JournalJournal of Medical Genetics