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- W2016346199 abstract "Papillon-Lefèvre syndrome (PLS) is an inherited human disease characterized by early-onset periodontitis and palmoplantar hyperkeratosis. Mutations of the lysosomal protease cathepsin C (CTSC) gene have been shown to be the genetic cause of Papillon-Lefèvre syndrome. There are several case reports in China, while there has been no study on the genetic analysis of PLS. We studied two Chinese patients carrying Papillon-Lefèvre syndrome and showing premature tooth loss and palmoplantar hyperkeratosis. Mutation screening and sequence analysis of the CTSC gene revealed a compound heterozygous mutation (c.415 G>A and c.778 T>C) in one patient, and two novel compound heterozygous mutations (c.851G>A and c.112delCCTG) in the other patient. Our novel discovery indicates that the phenotypes observed in these two patients are due to the CTSC gene mutation." @default.
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- W2016346199 date "2007-08-01" @default.
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- W2016346199 title "Novel Mutations of<i>Cathepsin C</i>Gene in Two Chinese Patients with Papillon-Lefèvre Syndrome" @default.
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- W2016346199 doi "https://doi.org/10.1177/154405910708600809" @default.
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