Heterogeneous clinical features in Cockayne syndrome patients and siblings carrying the same CSA mutations
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DOI: 10.1186/s13023-022-02257-1
Abstract: Background Cockayne syndrome (CS) is a rare autosomal recessive disorder caused by mutations in ERCC6/CSB or ERCC8/CSA that participate in the transcription-coupled nucleotide excision repair (TC-NER) of UV-induced DNA damage. CS patients display a large… read more here.
Keywords: cockayne syndrome; carrying csa; patients siblings; mutation ... See more keywords