Associated Papers
Neuroimaging to Genetics: Unraveling the Etiology of Cerebral Palsy in Children From Southern Brazil.
Do Valle DA et al.
Journal of Child Neurology, 2026
40534433 (PubMed )
Supplement: sj-pdf-1-jcn-10.1177_08830738251346918.pdf
Comprehensive analysis of recessive carrier status using exome and genome sequencing data in 1543 Southern Chinese.
Chau JFT et al.
Npj Genomic Medicine, 2022
35314707 (PubMed )
Supplement: 41525_2022_287_MOESM3_ESM.xlsx › SNV
Identification and Characterization of a Novel Recurrent ERCC6 Variant in Patients with a Severe Form of Cockayne Syndrome B.
Zayoud K et al.
Genes, 2021
34946871 (PubMed )
Supplement: genes-12-01922-s001.zip › Supplementary_Table_S1_Zayoud_K.pdf
Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome.
Laugel V et al.
Human Mutation, 2010
Cockayne syndrome: the expanding clinical and mutational spectrum.
Laugel V
Mechanisms of Ageing and Development, 0
The role of Cockayne syndrome group A (CSA) protein in transcription-coupled nucleotide excision repair.
Saijo M
Mechanisms of Ageing and Development, 0
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