Papillon–Lefèvre syndrome (PLS) with novel compound heterozygous mutation in the exclusion and Peptidase C1A domains of Cathepsin C gene
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DOI: 10.1007/s11033-020-05622-0
Abstract: Papillon Lefevre syndrome (PLS) manifests with palmoplantar keratoderma, combined with a rapidly progressive periodontitis associated with mutations in Cathepsin C ( CTSC ) gene. This article reports a 15-year old male proband with typical PLS… read more here.
Keywords: pls; y259c; syndrome pls; novel compound ... See more keywords