Study
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 |
|---|---|---|---|
| EGAD00001006961 |
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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