The discovery of the Papillon-Lefèvre syndrome, a rare cathepsin C related lysosomal disease

Brice Korkmaz; Seda Seren; Elodie Kara; Celia Moss

doi:10.20517/rdodj.2022.26

Rare Disease and Orphan Drugs Journal ›› 2022, Vol. 1 ›› Issue (4) :16 DOI: 10.20517/rdodj.2022.26

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The discovery of the Papillon-Lefèvre syndrome, a rare cathepsin C related lysosomal disease

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Brice Korkmaz, Seda Seren, Elodie Kara, Celia Moss. The discovery of the Papillon-Lefèvre syndrome, a rare cathepsin C related lysosomal disease. Rare Disease and Orphan Drugs Journal, 2022, 1(4): 16 DOI:10.20517/rdodj.2022.26

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References

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[1]	Toomes C,Wood AJ.Loss-of-function mutations in the cathepsin C gene result in periodontal disease and palmoplantar keratosis.Nat Genet1999;23:421-4

[2]	Shawli A,AlQuhaibi AS,Aboud AM.A Mutation in Cathepsin C Gene Causing Papillon-Lefèvre Syndrome in a Saudi Patient: A Case Report.Cureus2020;12:e6546 PMCID:PMC6942505

[3]	Korkmaz B,Chapple I.Therapeutic targeting of cathepsin C: from pathophysiology to treatment.Pharmacol Ther2018;190:202-36

[4]	Papillon M.Two cases of symmetrically familial palmar and plantar hyperkeratosis (Meleda disease) within brother and sister combined with severe dental alterations in both cases.Bull Soc Fr Dermatol Syphiligr1924;31:82-7