Article
Identification of two missense mutations of ERCC6 in three Chinese sisters with Cockayne syndrome by whole exome sequencing.
PloS one - 1 Jan 2014
Yu Shanshan, Chen Liyuan, Ye Lili, Fei Lingna, Tang Wei, Tian Yujiao, Geng Qian, Yi Xin, Xie Jiansheng
Abstract excerpt
Cockayne syndrome (CS) is a rare autosomal recessive disorder, the primary manifestations of which are poor growth and neurologic abnormality. Mutations of the ERCC6 and ERCC8 genes are the predominant cause of Cockayne syndrome, and the ERCC6 gene mutation is present in approximately 65% of cases. The present report describes a case of Cockayne syndrome in a Chinese family, with the patients carrying two...
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