Array-based molecular karyotyping in 115 VATER/VACTERL and VATER/VACTERL-like patients identifies disease-causing copy number variations

Zhang, R; Marsch, F; Kause, F; Degenhardt, F; Schmiedeke, E; Marzheuser, S; Hoppe, B; Bachour, H; Boemers, TM; Schafer, M; Spychalski, N; Neser, J; Leonhardt, J; Kosch, F; Ure, B; Gomez, B; Lacher, M; Deffaa, OJ; Palta, M; Wittekindt, B; Kleine, K; S

Reutter, H (reprint author), Univ Bonn, Inst Human Genet, Sigmund Freud Str 25, D-53105 Bonn, Germany.; Reutter, H (reprint author), Univ Bonn, Dept Neonatol & Pediat Intens Care, Sigmund Freud Str 25, D-53105 Bonn, Germany.

BIRTH DEFECTS RESEARCH, 2017; 109 (13): 1063

Abstract

BackgroundThe acronym VATER/VACTERL refers to the rare nonrandom association of the following component features (CF): vertebral defects (V), anorecta......

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