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

Author(s):
Overwater, E.; Floor, K.; Beek, D. van; Boer, K. de; Dijk, T. van; Hilhorst-Hofstee, Y.; Hoogeboom, A.J.M.; Kaam, K.J. van; Kamp, J.M. van de; 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.; Tintelen, J.P. van; Weiss, M.M.; Houweling, A.C.; Maugeri, A.
Published
2017
Publication type
Article / Letter to editor
Ectopia lentisNext generation sequencingGene panelADAMTSL4FBN1
Date issued
2017-09-30
Language
English
Is part of
European Journal of Medical Genetics (2017), Vol. 60, no. 9, p. 465-473
hdl
1887/94916
doi
10.1016/j.ejmg.2017.06.005