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A novel missense variant in cathepsin C gene leads to PLS in a Chinese patient: A case report and literature review
BACKGROUND: Papilon‐Lefevre syndrome (PLS; OMIM 245000) is a rare autosomal recessive disease characterized by aggressive periodontitis and palmoplantar keratoderma. The prevalence of PLS in the general population is one to four cases per million. Although the etiology and pathogenic mechanisms unde...
| Autores principales: | , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
John Wiley and Sons Inc.
2021
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8372118/ https://www.ncbi.nlm.nih.gov/pubmed/33949806 http://dx.doi.org/10.1002/mgg3.1686 |