Novel clinical and molecular findings in Spanish patients with Nevoid Basal Cell Carcinoma Syndrome

ConclusionThis study contributes to increase the pool of clinical manifestations of the NBCCS, as well as increasing the number of pathogenic mutations identified in PTCH1 predisposing to the condition. The inconsistencies found between phenotype and genotype suggest the involvement of other modifying genetic/epigenetic or environmental.This article is protected by copyright. All rights reserved. (Source: British Journal of Dermatology)

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