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Papillon-Lefevre Syndrome
BACKGROUND: Papillon-Lefevre syndrome is a rare autosomal recessive disorder caused by cathepsin C gene mutation leading to the deficiency of cathepsin C enzymatic activity. The disease is characterized by palmoplantar hyperkeratosis, loss of deciduous and permanent teeth and increased susceptibilit...
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| Asıl Yazarlar: | , , |
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| Materyal Türü: | Artigo |
| Dil: | Inglês |
| Baskı/Yayın Bilgisi: |
Specjalisci Dermatolodzy
2009
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| Konular: | |
| Online Erişim: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3163345/ https://ncbi.nlm.nih.gov/pubmed/21886733 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3315/jdcr.2009.1039 |
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