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7. Sublocalization of the Papillon-Lefevre syndrome locus on 11q14-q21. Hart TC; Bowden DW; Ghaffar KA; Wang W; Cutler CW; Cebeci I; Efeoglu A; Firatli E Am J Med Genet; 1998 Sep; 79(2):134-9. PubMed ID: 9741471 [TBL] [Abstract][Full Text] [Related]
8. Palmoplantar keratoderma, oral involvement, and homozygous CTSC mutation in two brothers from Cambodia. Wei H; Wee LWY; Born B; Seang S; Koh MJA; Yee R; Lin G; Rafi'ee K; Mey S; Tan EC Am J Med Genet A; 2020 Feb; 182(2):296-302. PubMed ID: 31846207 [TBL] [Abstract][Full Text] [Related]
9. Haim Munk syndrome and Papillon Lefevre syndrome--allelic mutations in cathepsin C with variation in phenotype. Rai R; Thiagarajan S; Mohandas S; Natarajan K; Shanmuga Sekar C; Ramalingam S Int J Dermatol; 2010 May; 49(5):541-3. PubMed ID: 20534088 [TBL] [Abstract][Full Text] [Related]
10. Loss-of-function mutations in the cathepsin C gene result in periodontal disease and palmoplantar keratosis. Toomes C; James J; Wood AJ; Wu CL; McCormick D; Lench N; Hewitt C; Moynihan L; Roberts E; Woods CG; Markham A; Wong M; Widmer R; Ghaffar KA; Pemberton M; Hussein IR; Temtamy SA; Davies R; Read AP; Sloan P; Dixon MJ; Thakker NS Nat Genet; 1999 Dec; 23(4):421-4. PubMed ID: 10581027 [TBL] [Abstract][Full Text] [Related]
11. The role of cathepsin C in Papillon-Lefèvre syndrome, prepubertal periodontitis, and aggressive periodontitis. Hewitt C; McCormick D; Linden G; Turk D; Stern I; Wallace I; Southern L; Zhang L; Howard R; Bullon P; Wong M; Widmer R; Gaffar KA; Awawdeh L; Briggs J; Yaghmai R; Jabs EW; Hoeger P; Bleck O; Rüdiger SG; Petersilka G; Battino M; Brett P; Hattab F; Al-Hamed M; Sloan P; Toomes C; Dixon M; James J; Read AP; Thakker N Hum Mutat; 2004 Mar; 23(3):222-8. PubMed ID: 14974080 [TBL] [Abstract][Full Text] [Related]
12. Palmoplantar keratoderma in association with carcinoma of the esophagus maps to chromosome 17q distal to the keratin gene cluster. Hennies HC; Hagedorn M; Reis A Genomics; 1995 Sep; 29(2):537-40. PubMed ID: 8666405 [TBL] [Abstract][Full Text] [Related]
14. Hyperkeratosis palmoplantaris with periodontosis. "Papillon-LeFevre syndrome". Report of three cases in the same family. Fayed NA; Nasif A; Younis AS; Ayoub AF Egypt Dent J; 1984 Jan; 30(1):77-84. PubMed ID: 6241143 [No Abstract] [Full Text] [Related]
15. Destructive arthritis in a patient with Haim-munk syndrome. Lidar M; Zlotogorski A; Langevitz P; Tweezer-Zaks N; Zandman-Goddard G J Rheumatol; 2004 Apr; 31(4):814-7. PubMed ID: 15088315 [TBL] [Abstract][Full Text] [Related]
16. A homozygous cathepsin C mutation associated with Haim-Munk syndrome. Cury VF; Gomez RS; Costa JE; Friedman E; Boson W; De Marco L Br J Dermatol; 2005 Feb; 152(2):353-6. PubMed ID: 15727652 [TBL] [Abstract][Full Text] [Related]
17. Papillon-Lefevre syndrome. A report of six cases in one family. Pareek SS; Al-Aska AK Int J Dermatol; 1986 Dec; 25(10):638-41. PubMed ID: 2948927 [TBL] [Abstract][Full Text] [Related]
18. Localization of a locus for the striated form of palmoplantar keratoderma to chromosome 18q near the desmosomal cadherin gene cluster. Hennies HC; Küster W; Mischke D; Reis A Hum Mol Genet; 1995 Jun; 4(6):1015-20. PubMed ID: 7544663 [TBL] [Abstract][Full Text] [Related]
19. Localisation of a gene for Papillon-Lefèvre syndrome to chromosome 11q14-q21 by homozygosity mapping. Laass MW; Hennies HC; Preis S; Stevens HP; Jung M; Leigh IM; Wienker TF; Reis A Hum Genet; 1997 Dec; 101(3):376-82. PubMed ID: 9439671 [TBL] [Abstract][Full Text] [Related]
20. [Recurrent European missense mutation in a Hungarian pedigree with Papillon-Lefèvre syndrome]. Vályi P; Farkas K; Tripolszki K; Sulák A; Széll M; Nagy N; Nagy K Fogorv Sz; 2014 Sep; 107(3):87-92. PubMed ID: 25509509 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]