The genetic basis of DOORS syndrome: an exome-sequencing study

Campeau P. M., Kasperaviciute D., Lu J. T., Burrage L. C., Kim C., Hori M., ...Daha Fazla

LANCET NEUROLOGY, cilt.13, sa.1, ss.44-58, 2014 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 13 Sayı: 1
  • Basım Tarihi: 2014
  • Doi Numarası: 10.1016/s1474-4422(13)70265-5
  • Dergi Adı: LANCET NEUROLOGY
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.44-58
  • İstanbul Üniversitesi Adresli: Evet

Özet

Background Deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures (DOORS) syndrome is a rare autosomal recessive disorder of unknown cause. We aimed to identify the genetic basis of this syndrome by sequencing most coding exons in affected individuals.