A rare CTSC mutation in Papillon-Lefèvre Syndrome

Study ID Alternative Stable ID Type
EGAS00001005040 Other

Study 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.

Study Datasets 1 dataset.

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Dataset ID Description Technology Samples
The sequencing data of the CTSC gene after whole genome sequencing of blood samples from two individuals with Papillon-Lèfevre Syndrome.
Illumina NovaSeq 6000 2

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