NGS panel analysis in 24 ectopia lentis patients; a clinically relevant test with a high diagnostic yield

E. Overwater*, K. Floor, D. van Beek, K. de Boer, T. van Dijk, Y. Hilhorst-Hofstee, A. J. M. Hoogeboom, K. J. van Kaam, J. M. van de Kamp, M. Kempers, I. P. C. Krapels, H. Y. Kroes, B. Loeys, S. Salemink, C. T. R. M. Stumpel, V. J. M. Verhoeven, E. Wijnands-van den Berg, J. M. Cobben, J. P. van Tintelen, M. M. WeissA. C. Houweling, A. Maugeri

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

Original languageEnglish
Pages (from-to)465-473
Number of pages9
JournalEuropean Journal of Medical Genetics
Volume60
Issue number9
DOIs
Publication statusPublished - Sep 2017

Keywords

  • Ectopia lentis
  • Next generation sequencing
  • Gene panel
  • ADAMTSL4
  • FBN1
  • MARFAN-SYNDROME
  • FOUNDER MUTATION
  • FIBRILLIN-1
  • CRANIOSYNOSTOSIS
  • MICROFIBRILS
  • PROTEINS
  • PUPILLAE
  • FAMILY
  • GENE

Cite this

Overwater, E., Floor, K., van Beek, D., de Boer, K., van Dijk, T., Hilhorst-Hofstee, Y., Hoogeboom, A. J. M., van Kaam, K. J., van de Kamp, J. M., Kempers, M., Krapels, I. P. C., Kroes, H. Y., Loeys, B., Salemink, S., Stumpel, C. T. R. M., Verhoeven, V. J. M., Wijnands-van den Berg, E., Cobben, J. M., van Tintelen, J. P., ... Maugeri, A. (2017). NGS panel analysis in 24 ectopia lentis patients; a clinically relevant test with a high diagnostic yield. European Journal of Medical Genetics, 60(9), 465-473. https://doi.org/10.1016/j.ejmg.2017.06.005