Atypical features and de novo heterozygous mutations in two siblings with Cockayne syndrome.
Shuiyan WuYing LiuQian ZhangXiangying MengLinlin HuangZhong XuChunxu ZhangYing LiTing ChenZhenjiang BaiPublished in: Molecular genetics & genomic medicine (2020)
For patients with Cockayne syndrome, cardiac changes need to be monitored carefully, especially for cases with splicing mutations of the ERCC8 gene.