Loss-of-function mutations in the cathepsin C gene result in periodontal disease and palmoplantar keratosis

Autor: Ibtessam Ramzy Hussein, Khaled Abdul Ghaffar, Philip Sloan, A. J. Wood, Melanie Wong, Nalin Thakker, L M Moynihan, Chu Lee Wu, Carmel Toomes, Samia A. Temtamy, Richard P Widmer, MB Pemberton, D. McCormick, Jacqueline James, Emma Roberts, C. Hewitt, Nicholas Lench, Robin M. Davies, Michael J. Dixon, Andrew P. Read, AF Markham, C.G. Woods

Publikováno v: Toomes, C, James, J, Wood, A J, Wu, C L, McCormick, D, Lench, N, Hewitt, C, Moynihan, L, Roberts, E, Woods, C G, Markham, A, Wong, M, Widmer, R, Ghaffar, K A, Pemberton, M, Hussein, I R, Temtamy, S A, Davies, R, Read, A P, Sloan, P, Dixon, M J & Thakker, N S 1999, ' Loss-of-function mutations in the cathepsin C gene result in periodontal disease and palmoplantar keratosis ', Nature Genetics, vol. 23, no. 4, pp. 421-424 . https://doi.org/10.1038/70525

Papillon-Lefèvre syndrome, or keratosis palmoplantaris with periodontopathia (PLS, MIM 245000), is an autosomal recessive disorder that is mainly ascertained by dentists because of the severe periodontitis that afflicts patients. Both the deciduous

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https://pure.manchester.ac.uk/ws/files/22881266/POST-PEER-REVIEW-PUBLISHERS.PDF

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