| Article ID | Journal | Published Year | Pages | File Type |
|---|---|---|---|---|
| 5588991 | European Journal of Medical Genetics | 2017 | 37 Pages |
Abstract
The diagnostic yield of our NGS panel was high. Causative mutations were exclusively identified in ADAMTSL4 and FBN1. With this approach the risk of misdiagnosis or delayed diagnosis can be reduced. The value and clinical implications of establishing a genetic diagnosis in patients with EL is corroborated by the description of two patients with an unexpected underlying genetic condition.
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Authors
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,