A new mutation in the CSB gene in a Chinese patient with mild Cockayne syndrome. Issue 2 (7th February 2014)

• Record Type: Journal Article
• Authors: Luo, Yu; Ling, Yan; Chen, Jiachao; Xu, Xi; Chen, Chen; Leng, Fei; Cheng, Jing; Chen, Min; Lu, Zhiqiang
• Is Part Of: Clinical case reports. Volume 2:Issue 2(2014:Apr.)
• Page Start: 33
• Page End: 36
• Publication Date: 2014-02-07
• Subjects: Medicine -- Periodicals; 616.09
• DOI: 10.1002/ccr3.47
• Languages: English
• ISSNs: 2050-0904

Abstract

<abstract abstract-type="main" id="ccr347-abs-0001"> <title>Key Clinical Message</title> <p>Cockayne syndrome (CS) is a rare autosomal recessive genetic disease characterized by growth failure and progressive neurological degeneration. Here we report a mild form of CS patient who was homozygous for the C526T transition resulting in a new nonsense mutation, which converts Arg176 to a stop codon.</p> </abstract>