Article
Atypical features and de novo heterozygous mutations in two siblings with Cockayne syndrome.
Molecular genetics & genomic medicine - 1 May 2020
Wu Shuiyan, Liu Ying, Zhang Qian, Meng Xiangying, Huang Linlin, Xu Zhong, Zhang Chunxu, Li Ying, Chen Ting, Bai Zhenjiang
Abstract excerpt
BACKGROUND: Cockayne syndrome (CS) is a rare autosomal recessive disorder which displays multiorgan dysfunction, especially within the nervous system including psychomotor retardation, cerebral atrophy, microcephaly, cognitive dysfunction, mental retardation, and seizures. Many genetic variations reported were related to this syndrome, but splicing mutations with cardiac anomalies have not been found in previous...
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