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  • Bi-allelic variants in COL3A1 encoding the ligand to GPR56 are associated with cobblestone-like cortical malformation, white matter changes and cerebellar cysts

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Original Article
Bi-allelic variants in COL3A1 encoding the ligand to GPR56 are associated with cobblestone-like cortical malformation, white matter changes and cerebellar cysts

Authors

  • Laura Vandervore Neurogenetics Research Group, Research Cluster Reproduction, Genetics and Regenerative Medicine, Vrije Universiteit Brussel, Brussels, Belgium Center for Medical Genetics, UZ Brussel, Brussels, Belgium PubMed articlesGoogle scholar articles
  • Katrien Stouffs Neurogenetics Research Group, Research Cluster Reproduction, Genetics and Regenerative Medicine, Vrije Universiteit Brussel, Brussels, Belgium Center for Medical Genetics, UZ Brussel, Brussels, Belgium PubMed articlesGoogle scholar articles
  • Ibrahim Tanyalçin Neurogenetics Research Group, Research Cluster Reproduction, Genetics and Regenerative Medicine, Vrije Universiteit Brussel, Brussels, Belgium Center for Medical Genetics, UZ Brussel, Brussels, Belgium PubMed articlesGoogle scholar articles
  • Tim Vanderhasselt Department of Radiology, UZ Brussel, Brussels, Belgium PubMed articlesGoogle scholar articles
  • Filip Roelens Department of Pediatric Neurology, AZ Delta, Roeselare, Belgium PubMed articlesGoogle scholar articles
  • Muriel Holder-Espinasse Department of Clinical Genetics, Guy’s Hospital, London, UK PubMed articlesGoogle scholar articles
  • Agnete Jørgensen Division of Child and Adolescent Health, Department of Medical Genetics, University Hospital of North Norway, Tromsø, Norway PubMed articlesGoogle scholar articles
  • Melanie G Pepin Department of Pathology, University of Washington, Seattle, Washington, USA PubMed articlesGoogle scholar articles
  • Florence Petit Service de Génétique Clinique, Hôpital J. de Flandre, Lille, France PubMed articlesGoogle scholar articles
  • Philippe Khau Van Kien Unité de Génétique Médicale, Nîmes University Hospital,CHU Carémeau, Nîmes, France PubMed articlesGoogle scholar articles
  • Nadia Bahi-Buisson Institut Imagine, Université Paris Descartes - Sorbonne Paris Cités, Paris, France PubMed articlesGoogle scholar articles
  • Willy Lissens Neurogenetics Research Group, Research Cluster Reproduction, Genetics and Regenerative Medicine, Vrije Universiteit Brussel, Brussels, Belgium Center for Medical Genetics, UZ Brussel, Brussels, Belgium PubMed articlesGoogle scholar articles
  • Alexander Gheldof Neurogenetics Research Group, Research Cluster Reproduction, Genetics and Regenerative Medicine, Vrije Universiteit Brussel, Brussels, Belgium Center for Medical Genetics, UZ Brussel, Brussels, Belgium PubMed articlesGoogle scholar articles
  • Peter H Byers Department of Pathology, University of Washington, Seattle, Washington, USA Department of Medicine (Medical Genetics), University of Washington, Seattle, USA PubMed articlesGoogle scholar articles
  • Anna C Jansen Neurogenetics Research Group, Research Cluster Reproduction, Genetics and Regenerative Medicine, Vrije Universiteit Brussel, Brussels, Belgium Department of Pediatrics, Pediatric Neurology Unit, UZ Brussel, Brussels, Belgium PubMed articlesGoogle scholar articles
  1. Correspondence to Professor Anna C Jansen, Neurogenetics Research Group, Laarbeeklaan 101, 1090 Brussels,Belgium; anna.jansen{at}uzbrussel.be
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Citation

Vandervore L, Stouffs K, Tanyalçin I, et al
Bi-allelic variants in COL3A1 encoding the ligand to GPR56 are associated with cobblestone-like cortical malformation, white matter changes and cerebellar cysts
Journal of Medical Genetics 2017;54:432-440.

Publication history

  • Received November 1, 2016
  • Revised January 17, 2017
  • Accepted January 19, 2017
  • First published March 3, 2017.
Online issue publication 
December 28, 2018

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© Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2017. All rights reserved. No commercial use is permitted unless otherwise expressly granted.