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...
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| Autors principals: | , |
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| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
QAASPA Publisher
2025-06-01
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| Col·lecció: | BioMed Target Journal |
| Matèries: | |
| Accés en línia: | https://qaaspa.com/index.php/bmtj/article/view/86 |
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