First molecular study in Lebanese patients with Cockayne syndrome and report of a novel mutation in ERCC8 gene

摘要

BackgroundCockayne Syndrome (CS) is a rare autosomal recessive disorder characterized by neurological and sensorial impairment, dwarfism, microcephaly and photosensitivity. CS is caused by mutations in ERCC6 (CSB) or ERCC8 (CSA) genes.