A novel missense variant in cathepsin C gene leads to PLS in a Chinese patient: A case report and literature review

A novel missense variant in cathepsin C gene leads to PLS in a Chinese patient: A case report and literature review

Abstract 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 mechani...

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Bibliographic Details
Main Authors: Hui Yu, Xun He, Xiangqin Liu, Houbin Zhang, Zhu Shen, Yi Shi, Xiaoqi Liu
Format: Article
Language:English
Published: Wiley 2021-07-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
Cathepsin C
missense variant
Papilon‐Lefevre syndrome
Online Access:https://doi.org/10.1002/mgg3.1686

Internet

https://doi.org/10.1002/mgg3.1686

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