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Article

First evidence of genotype–phenotype correlations in Gorlin syndrome

8 Jun 2017

Abstract excerpt

Background 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. Methods We assessed...

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PMID: 28596197
DOI: 10.1136/jmedgenet-2017-104669

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