Development of a targeted gene panel for the diagnosis of Gorlin syndrome

In this study, a gene panel was developed to overcome the challenges in the diagnosis of Gorlin syndrome and allow diagnosis using a single test. A custom panel was generated for four genes associated with Gorlin syndrome: PTCH1, PTCH2, SMO, and SUFU. Twenty-seven samples from 12 patients with Gorlin syndrome and three asymptomatic blood relatives of the patients were examined.
Source: International Journal of Oral and Maxillofacial Surgery - Category: ENT & OMF Authors: Tags: Research Paper Source Type: research