Neurology

A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome

  • Authors: Theodore G Drivas; Dong Li; Divya Nair; Joseph T Alaimo; Mariëlle Alders; Janine Altmüller; Tahsin Stefan Barakat; E Martina Bebin; Nicole L Bertsch; Patrick R Blackburn; Alyssa Blesson; Arjan M Bouman; Knut Brockmann; Perrine Brunelle; Margit Burmeister; Gregory M Cooper; Jonas Denecke; Anne Dieux-Coëslier; Alejandro Ferrer; Danna Gal; Lauren E Bartik; Lauren B Gunderson; Linda Hasadsri; Mahim Jain; Catherine Karimov; Beth Keena; Eric W. Klee; Katja Kloth; Baiba Lace; Marina Macchiaiolo; Julien L Marcadier; Jeff M Milunsky; Melanie P Napier; Xilma R Ortiz-Gonzalez; Pavel N Pichurin; Holly Dubbs; Jason Pinner; Zoe Powis; Chitra Prasad; Francesca Clementina Radio; Kristen J Rasmussen; Deborah L Renaud; Eric T Rush; Carol Saunders; Duygu Selcen; Ann R Seman; Deepali N Shinde; Erica D Smith; Thomas Smol; Lot Snijders Blok; Joan M Stoler; Sha Tang; Marco Tartaglia; Michelle L Thompson; Jiddeke M. van de Kamp; Jingmin Wang; Dagmar Weise; Karin Weiss; Rixa Woitschach; Bernd Wollnik; Huifang Yan; Elaine H Zackai; Giuseppe Zampino; Philippe Campeau; Elizabeth Bhoj
  • Collaborators: Alberta Children's Hospital; Boston Children's Hospital; Center for Human Genetics; Children's Hospital of Philadelphia; Children's Mercy Hospital Kansas City; CHU Lille; CHUQ-CHUL; Erasmus University Medical Center; HudsonAlpha Institute for Biotechnology; Human Genetics Department, Radboud University Medical Center; Kennedy Krieger Institute; Max Planck Institute for Psycholinguistics; Mayo Clinic; Ospedale Pediatrico Bambino Gesù; Peking University; Rambam Health Care Campus; Royal Devon and Exeter NHS Foundation Trust; Sydney Children's Hospital; Technion-Israel Institute of Technology; University Medical Center Göttingen; University Medical Center Hamburg-Eppendorf; University of Alabama at Birmingham; University of Amsterdam; University of Cologne; University of Kansas Medical Center; University of Michigan; University of Missouri-Kansas City School of Medicine; University of Montreal; University of Pennsylvania; University of Southern California; Western University, London, Ontario, Canada; WWHS
  • Journal: European journal of human genetics
  • Date: 2020 - Oct

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