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The full spectrum of holoprosencephaly‐associated mutations within the ZIC2 gene in humans predicts loss‐of‐function as the predominant disease mechanism
Authors:Erich Roessler  Felicitas Lacbawan  Christèle Dubourg  Aimee Paulussen  Jos Herbergs  Ute Hehr  Claude Bendavid  Nan Zhou  Maia Ouspenskaia  Sherri Bale  Sylvie Odent  Vèronique David  Maximilian Muenke
Affiliation:1. Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA;2. In the authors opinion individuals contributed equally to this work.;3. Laboratoire de Génétique Moléculaire, CHU Pontchaillou, Rennes, France;4. CNRS UMR6061 Génétique et Développement, Université de Rennes 1, IFR 140, Rennes, France;5. Department of Clinical Genetics, Academic Hospital Maastricht (azM), The Netherlands;6. Institute of Human Genetics, Departments of Pediatrics and Pediatric Neurology, Georg August University, G?ttingen, Germany;7. GeneDx, Gaithersburg, MD, USA;8. Service de génétique clinique,CHU H?pital Sud, Rennes, France
Abstract:
Keywords:holoprosencephaly  mutation spectrum  ZIC2
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