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Papillon–Lefevre syndrome (PLS) without cathepsin C mutation: A rare early onset partially penetrant variant of PLS
Papillon–Lefevre syndrome (PLS) is a very rare, autosomal recessive syndrome characterized by palmar–plantar hyperkeratosis and severe destructive periodontitis. Most patients present with PLS harbor mutations in the cathepsin C gene, but recent studies have identified individuals with classic PLS s...
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| Main Authors: | , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Elsevier
2013
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3923170/ https://ncbi.nlm.nih.gov/pubmed/24526825 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.sdentj.2013.12.004 |
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