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Haim-Munk syndrome and Papillon-Lefèvre syndrome are allelic mutations in cathepsin C

Of the many palmoplantar keratoderma (PPK) conditions, only Papillon-Lefèvre syndrome (PLS) and Haim-Munk syndrome (HMS) are associated with premature periodontal destruction. Although both PLS and HMS share the cardinal features of PPK and severe periodontitis, a number of additional findings are r...

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Detalhes bibliográficos
Main Authors: Hart, T, Hart, P, Michalec, M, Zhang, Y, Firatli, E, Van Dyke, T E, Stabholz, A, Zlorogorski, A, Shapira, L, Soskolne, W
Formato: Artigo
Idioma:Inglês
Publicado em: BMJ Group 2000
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1734521/
https://ncbi.nlm.nih.gov/pubmed/10662807
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.37.2.88
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