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

Autor: K. Floor, Simone Salemink, K.J.A.F. van Kaam, J.M. van de Kamp, Ingrid P.C. Krapels, Marjan M. Weiss, T. van Dijk, E. Wijnands-van den Berg, D. van de Beek, Constance T. R. M. Stumpel, Marlies Kempers, Bart Loeys, Arjan C. Houweling, J. P. van Tintelen, A. J. M. Hoogeboom, K.H.N. de Boer, Hester Y. Kroes, Eline Overwater, V. J. M. Verhoeven, Alessandra Maugeri, J. M. Cobben, Yvonne Hilhorst-Hofstee

Publikováno v: European Journal of Medical Genetics, 60, 9, pp. 465-473
European Journal of Medical Genetics, 60(9), 465. Elsevier Masson SAS
European Journal of Medical Genetics, 60, 465-473
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, Weiss, M M, Houweling, A C & 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, vol. 60, no. 9, pp. 465-473 . https://doi.org/10.1016/j.ejmg.2017.06.005
European Journal of Medical Genetics, 60(9), 465-473. Elsevier Masson SAS
European Journal of Medical Genetics, 60(9), 465-473. Elsevier Masson
European Journal of Medical Genetics, 60(9), 465-473
European Journal of Medical Genetics, 60(9), 465-473. Elsevier
European journal of medical genetics, 60(9), 465-473. Elsevier Masson SAS

Background: Several genetic causes of ectopia lentis (EL), with or without systemic features, are known. The differentiation between syndromic and isolated EL is crucial for further treatment, surveillance and counseling of patients and their relativ

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c7d68ced92c4f3368fd0e2d7897c0e07
https://pure.eur.nl/en/publications/7d236abb-c8d8-4327-81f4-aa3e0e1265ba