A rare CTSC mutation in Papillon-Lefèvre Syndrome

ABSTRACT: 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.

PROVIDER: EGAS00001005040 | EGA |

REPOSITORIES: EGA