Article
Cohort study of Gorlin syndrome with emphasis on standardised phenotyping and quality of life assessment.
Internal medicine journal - 1 Jun 2017
Huq Aamira J, Bogwitz Michael, Gorelik Alexandra, Winship Ingrid M, White Susan M, Trainer Alison H
Abstract excerpt
BACKGROUND: Gorlin syndrome (nevoid basal cell carcinoma syndrome) is a rare genetic predisposition to basal cell carcinomas (BCC), keratocysts of the jaw and calcification of the falx cerebri among other clinical features. With the advent of sonic hedgehog inhibitors for the treatment of BCC, it is timely to establish a cohort of individuals with Gorlin syndrome and collect standardised phenotypic information on...
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