Atypical features and de novo heterozygous mutations in two siblings with Cockayne syndrome

ConclusionFor patients with Cockayne syndrome, cardiac changes need to be monitored carefully, especially for cases with splicing mutations of theERCC8 gene.

Source: Molecular Genetics & Genomic Medicine - March 18, 2020 Category: Genetics & Stem Cells Authors: Shuiyan Wu, Ying Liu, Qian Zhang, Xiangying Meng, Linlin Huang, Zhong Xu, Chunxu Zhang, Ying Li, Ting Chen, Zhenjiang Bai Tags: ORIGINAL ARTICLE Source Type: research