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Paper Details

Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein.
Genet Med
10
2022
Author NameAffiliation
Alexander J M DingemansThe Netherlands Donders Institute for Brain, Radboud University
Brad AngleAdvocate Children's Hospital
Orrin DevinskyNYU Grossman School of Medicine
Sara M Fitzgerald-ButtUniversite de Bourgogne Franche-Comte, UMR1-Inserm, Centre Hospitalier Universitaire Dijon, France Federation Hospitalo-Universitaire Medecine Translationnelle et Anomalies du Developpement (TRANSLAD)
Sally Ann Lynch
Irene ValenzuelaVall d'Hebron University Hospital and Medicine Genetics Group, Vall d'Hebron Research Institute
Christian GilissenThe Netherlands Radboud Institute for Molecular Life Sciences
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