Diagnostic exome sequencing in 266 Dutch patients with visual impairment

Lonneke Haer-Wigman, Wendy A. G. van Zelst-Stams, Rolph Pfundt, L. Ingeborgh van den Born, Caroline C. W. Klaver, Joke B. G. M. Verheij, Carel B. Hoyng, Martijn H. Breuning, Camiel J. F. Boon, Anneke J. Kievit, Virginie J. M. Verhoeven, Jan W. R. Pott, Suzanne C. E. H. Sallevelt, Johanna M. van Hagen, Astrid S. Plomp, Hester Y. Kroes, Stefan H. Lelieveld, Jayne Y. Hehir-Kwa, Steven Castelein, Marcel NelenHans Scheffer, Dorien Lugtenberg, Frans P. M. Cremers, Lies Hoefsloot, Helger G. Yntema*

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

Original languageEnglish
Pages (from-to)591-599
Number of pages9
JournalEuropean Journal of Human Genetics
Volume25
Issue number5
DOIs
Publication statusPublished - May 2017

Keywords

  • RETINITIS-PIGMENTOSA
  • CONGENITAL CATARACT
  • EYE DISEASE
  • MUTATIONS
  • DYSTROPHY
  • RECOMMENDATIONS
  • IDENTIFICATION
  • BLINDNESS
  • PROTEIN

Cite this