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

2021 ◽  
Author(s):  
Hui Yu ◽  
Xun He ◽  
Xiangqin Liu ◽  
Houbin Zhang ◽  
Zhu Shen ◽  
...  
Keyword(s):  
Case Report ◽  
Literature Review ◽  
Missense Variant ◽  
Chinese Patient ◽  
Cathepsin C

CHILD Syndrome: Case Report of a Chinese Patient and Literature Review of the NAD[P]H Steroid Dehydrogenase-Like Protein Gene Mutation

2015 ◽  
Vol 32 (6) ◽  
pp. e277-e282 ◽  
Author(s):  
Xiang-bin Mi ◽  
Miao-xuan Luo ◽  
Lin-lang Guo ◽  
Tang-de Zhang ◽  
Xian-wen Qiu
Keyword(s):  
Case Report ◽  
Literature Review ◽  
Gene Mutation ◽  
Protein Gene ◽  
Chinese Patient ◽  
Child Syndrome ◽  
Steroid Dehydrogenase
Sign in / Sign up

Export Citation Format

Share Document