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

• Main Authors: Alain Chebly (Author), Sandra Corbani (Author), Joelle Abou Ghoch (Author), Cybel Mehawej (Author), André Megarbane (Author), Eliane Chouery (Author)
• Format: Book
• Published: BMC, 2018-09-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background Cockayne 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. Methods Three patients with CS were referred to the Me...