Rare Homozygous CTSC Deletion in Siblings with Papillon-Lefevre Syndrome: A Case Report
Papillon-Lefevre syndrome (PLS) is an extremely rare autosomal recessive genodermatosis caused by mutations in the cathepsin C (CTSC) gene. It is characterized by palmoplantar keratoderma (PPK), periodontopathy, intracranial calcifications, and recurrent pyogenic infections. We encountered an Emirat...
Saved in:
| Main Authors: | , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
QAASPA Publisher
2025-06-01
|
| Series: | BioMed Target Journal |
| Subjects: | |
| Online Access: | https://qaaspa.com/index.php/bmtj/article/view/86 |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|