First evidence of genotype-phenotype correlations in Gorlin syndrome.

Authors
Evans, D
Oudit, Deemesh
Smith, M
Rutkowski, D
Allan, Ernest
Newman, W
Lear, J
Affiliation
Division of Evolution and Genomic Science, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester
Issue Date
2017-06-08

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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.
Citation
First evidence of genotype-phenotype correlations in Gorlin syndrome. 2017 J Med Genet
Journal
Journal of Medical Genetics
URI
http://hdl.handle.net/10541/620443
DOI
10.1136/jmedgenet-2017-104669
PubMed ID
28596197
Type
Article
Language
en
ISSN
1468-6244
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