Article
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 - 1 Jul 2021
Yu Hui, He Xun, Liu Xiangqin, Zhang Houbin, Shen Zhu, Shi Yi, Liu Xiaoqi
Abstract excerpt
BACKGROUND: Papilon-Lefevre syndrome (PLS; OMIM 245000) is a rare autosomal recessive disease characterized by aggressive periodontitis and palmoplantar keratoderma. The prevalence of PLS in the general population is one to four cases per million. Although the etiology and pathogenic mechanisms underlying PLS remain largely unclear, existing evidence shows loss-of-function mutations of the cathepsin C gene (CTSC;...
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