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Yu Luo, Yan Ling, Jiachao Chen, Xi Xu, Chen Chen, Fei Leng, Jing Cheng, Min Chen and Zhiqiang Lu A new mutation in the CSB gene in a Chinese patient with mild Cockayne syndrome Clinical Case Reports 2

Version of Record online: 7 FEB 2014 | DOI: 10.1002/ccr3.47

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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.

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