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Clinical and molecular genetic analysis of a Chinese patient with Cockayne syndrome caused by ERCC8 gene synonymous variation and exon 1 deletion

2024-10-22

Abstract excerpt

<title>Abstract</title> <p> Background Cockayne Syndrome (CS) is a rare autosomal recessive genetic disease, mainly caused by <italic>ERCC8</italic> and <italic>ERCC6</italic> gene defect. However, many of its molecular characteristics remain unclear. In this study, molecular genetic analysis was performed on a patient to clarify her genetic etiology. Results A 7-year-old girl fever for 4 days and thromboc...

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Literature Corpus work: 46683112-f814-5615-a8c1-38e1b803e145
DOI: 10.21203/rs.3.rs-5101880/v1

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