Associated Papers
Comprehensive analysis of NGS-based expanded carrier screening and follow-up in southern and southwestern China: results from 3024 Chinese individuals.
Huang Q et al.
Human Genomics, 2024
39380106 (PubMed )
Supplement: 40246_2024_680_MOESM1_ESM.xlsx › Supplementary_Table_3
Preimplantation genetic testing for Cockayne syndrome with a novel ERCC6 variant in a Chinese family.
He X et al.
Frontiers in Genetics, 2024
Two heterozygous mutations in the ERCC6 gene associated with Cockayne syndrome in a Chinese patient.
Zhang Q et al.
The Journal of International Medical Research, 2020
Identification of two missense mutations of ERCC6 in three Chinese sisters with Cockayne syndrome by whole exome sequencing.
Yu S et al.
Plos One, 2014
Maternal origin of a de novo microdeletion spanning the ERCC6 gene in a classic form of the Cockayne syndrome.
Zhang H et al.
European Journal of Medical Genetics, 0
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