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ANKRD11 variants: KBG syndrome and beyond

Parenti, I; Mallozzi, MB; Huning, I; Gervasini, C; Kuechler, A; Agolini, E; Albrecht, B; Baquero-Montoya, C; Bohring, A; Bramswig, NC; Busche, A; Dalski, A; Guo, YR; Hanker, B; Hellenbroich, Y; Horn, D; Innes, AM; Leoni, C; Li, YR; Lynch, SA; Mariani, M; Medne, L; Mikat, B; Milani, D; Onesimo, R; Ortiz-Gonzalez, X; Prott, EC; Reutter, H; Rossier, E; Selicorni, A; Wieacker, P; Wilkens, A; Wieczorek, D; Zackai, EH; Zampino, G; Zirn, B; Hakonarson, H; Deardorff, MA; Gillessen-Kaesbach, G; Kaiser, FJ

Parenti, I (corresponding author), Univ Duisburg Essen, Univ Klinikum Essen, Inst Humangenet, Hufelandstr 55, D-45122 Essen, Germany.

CLINICAL GENETICS, 2021; 100 (2): 187

Abstract

Mutations affecting the transcriptional regulator Ankyrin Repeat Domain 11 (ANKRD11) are mainly associated with the multisystem developmental disorder......

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