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

Abstract 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 relatives. Next generation sequencing (NGS) is a...

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Veröffentlicht in:	European journal of medical genetics 2017-09, Vol.60 (9), p.465-473
Hauptverfasser:	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
Format:	Artikel
Sprache:	eng
Schlagworte:	ADAMTS Proteins - genetics ADAMTSL4 Adolescent Adult Aged Child Child, Preschool Ectopia lentis Ectopia Lentis - diagnosis Ectopia Lentis - genetics False Positive Reactions FBN1 Female Gene panel Genetic Testing - methods Genetic Testing - standards High-Throughput Nucleotide Sequencing - methods High-Throughput Nucleotide Sequencing - standards Humans Infant Male Medical Education Middle Aged Next generation sequencing Sensitivity and Specificity Sequence Analysis, DNA - methods Sequence Analysis, DNA - standards
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