First evidence of genotype-phenotype correlations in Gorlin syndrome.
Evans, D Oudit, Deemesh Smith, M Rutkowski, D Allan, Ernest Newman, W Lear, J
Evans, D
Oudit, Deemesh
Smith, M
Rutkowski, D
Allan, Ernest
Newman, W
Lear, J
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Abstract
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.
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2017-06-08
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First evidence of genotype-phenotype correlations in Gorlin syndrome. 2017 J Med Genet