Article

Heterogeneous clinical features in Cockayne syndrome-A patients with the same mutation and in siblings

2021-06-15

Abstract excerpt

<title>Abstract</title> <p>Background Cockayne syndrome (CS) is a rare autosomal recessive disorder caused by mutations in <italic>ERCC6</italic>/CSB or <italic>ERCC8/</italic>CSA that participate in transcription-coupled nucleotide excision repair (TC-NER) of UV-induced DNA damage. CS patients display a large heterogeneity of clinical symptoms and severities, the reason of which is not fully understood, and lit...

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Literature Corpus work: 22e9e47e-549c-5840-a612-f5140a706207
DOI: 10.21203/rs.3.rs-603999/v1

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