Papillon-Lefevre syndrom: kazuistika

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Title in English Papillon-Lefevre syndrome: case report
Authors

IZAKOVIČOVÁ HOLLÁ Lydie FASSMANN Antonín KUKLETOVÁ Martina SAZMOVÁ Věra

Year of publication 2009
Type Article in Periodical
Magazine / Source Praktické zubní lékařství
MU Faculty or unit

Faculty of Medicine

Citation
Field ORL, ophthalmology, stomatology
Keywords Papillon-Lefevre syndrome; hyperkeratosis; periodontitis; gene; mutation; cathepsin C
Description Papillon-Lefevre syndrome (PLS) is a rare autosomal recessive disorder characterized by severe early-onset periodontal destruction involving both the deciduous and permanent dentition and skin lesions of palmoplantar hyperkeratosis. Recently it was found that PLS patients carry loss-of-function mutations in the gene encoding cathepsin C (CTSC). The aim of this study was analyzed the CTST gene in one Czech family with PLS.
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