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

ConclusionOur study analyzed a Chinese family with PLS and identified a novel missense variant in theCTSC gene. Besides, this study retrospectively summarized 113 variants ofCTSC in the world and highlighted the features of 27CTSC variants in Chinese PLS patients. In addition, this study paid much particular attention to the relationship betweenCTSC variants and different phenotypes.
Source: Molecular Genetics & Genomic Medicine - Category: Genetics & Stem Cells Authors: Tags: REVIEW ARTICLE Source Type: research