Project description:Papillon-Lefèvre Syndrome (PLS) is an autosomal recessive monogenic disease caused by loss-of-function mutations in the CTSC gene. In this study we performed whole genome sequencing on two siblings, with the PLS-typical symptoms. After sequencing the CTSC gene was analyzed to confirm the PLS diagnosis genetically.
Project description:Patients exposed to vancomycin resistant enterococci (VRE) during in-hospital outbreaks in a low endemic setting: who is at risk for acquisition? Report of three outbreaks with VRE in Switzerland, 2018-2019
