First molecular study in Lebanese patients with Cockayne syndrome and report of a novel mutation in ERCC8 gene.
Alain CheblySandra CorbaniJoelle Abou GhochCybel MehawejAndré MegarbaneEliane ChoueryPublished in: BMC medical genetics (2018)
Molecular diagnosis was established in all patients included in our study. A genotype-phenotype correlation is discussed and a link, between mutations and some specific religious communities in Lebanon, is suggested.