A novel X-linked disorder with developmental delay and autistic features

Kaya N., Colak D., Albakheet A., Al-Owain M., Abu-Dheim N., Al-Younes B., ...More

ANNALS OF NEUROLOGY, vol.71, no.4, pp.498-508, 2012 (Journal Indexed in SCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 71 Issue: 4
  • Publication Date: 2012
  • Doi Number: 10.1002/ana.22673
  • Title of Journal : ANNALS OF NEUROLOGY
  • Page Numbers: pp.498-508


Objective: Genomic duplications that lead to autism and other human diseases are interesting pathological lesions since the underlying mechanism almost certainly involves dosage sensitive genes. We aim to understand a novel genomic disorder with profound phenotypic consequences, most notably global developmental delay, autism, psychosis, and anorexia nervosa.