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., ...Daha Fazla

ANNALS OF NEUROLOGY, cilt.71, sa.4, ss.498-508, 2012 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 71 Sayı: 4
  • Basım Tarihi: 2012
  • Doi Numarası: 10.1002/ana.22673
  • Dergi Adı: ANNALS OF NEUROLOGY
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.498-508
  • İstanbul Üniversitesi Adresli: Evet

Özet

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.