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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 Chouery
Published 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.
Keyphrases
  • end stage renal disease
  • ejection fraction
  • newly diagnosed
  • gene expression
  • peritoneal dialysis
  • transcription factor
  • patient reported