Papillon–Lefèvre syndrome (PLS) with novel compound heterozygous mutation in the exclusion and Peptidase C1A domains of Cathepsin C gene
Author:
Funder
The PSG & Sons’ Charities Trust, Coimbatore, Tamil Nadu, India.
Publisher
Springer Science and Business Media LLC
Subject
Genetics,Molecular Biology,General Medicine
Link
http://link.springer.com/content/pdf/10.1007/s11033-020-05622-0.pdf
Reference22 articles.
1. Papillon MN, Lefevre B (1924) Two cases of familial symmetric palmoplanter keratosis (Maleda’s disease) in a brother and his sister. Alterations in both cases (in French). Bull Soc Francaise Dermatologie Syphiligraphie 31:81–84
2. Fageeh HN (2018) Papillon-Lefèvre syndrome: a rare case report of two brothers and review of the literature. Int J Clin Pediatr Dent 1:352–355. https://doi.org/10.5005/jp-journals-10005-1523
3. Korkmaz B, Caughey GH, Chapple I et al (2018) Therapeutic targeting of cathepsin C: from pathophysiology to treatment. Pharmacol Ther 190:202–236. https://doi.org/10.1016/j.pharmthera.2018.05.011
4. Hart TC, Bowden DW, Ghaffar KA, Wang W, Cutler CW, Cebeci I et al (1998) Sublocalization of the Papillon-Lefevre syndrome on chromosome 11q14-q21. Am J Med Genet 79(19980901):134–139
5. Lingeswaran A, Gopal SD (2018) A rare presentation of psychotic depression with suicidality in a case of papillon–lefèvre syndrome. Indian J Psychol Med 40:372–374
Cited by 2 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献
1. Cathepsin C in health and disease: from structural insights to therapeutic prospects;Journal of Translational Medicine;2024-08-20
2. A novel missense variant in cathepsin C gene leads to PLS in a Chinese patient: A case report and literature review;Molecular Genetics & Genomic Medicine;2021-05-05
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