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Original research
Bi-allelic variants in WNT7B disrupt the development of multiple organs in humans

Authors

  • Samir Bouasker Research Center, University Hospital Centre Sainte-Justine, Montreal H3T 1C5, Québec, Canada PubMed articlesGoogle scholar articles
  • Nisha Patel Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia PubMed articlesGoogle scholar articles
  • Rebecca Greenlees Eye Genetics Research Unit, Children's Medical Research Institute, University of Sydney; The Children’s Hospital at Westmead, Sydney Children’s Hospitals Network; and Save Sight Institute, Sydney, New South Wales, Australia PubMed articlesGoogle scholar articles
  • Diana Wellesley Wessex Clinical Genetic Service, University Hospital Southampton, Southampton, UK PubMed articlesGoogle scholar articles
  • Lucas Fares Taie Laboratory Genetics in Ophthalmology, INSERM UMR1163, Imagine Institute for Genetic Diseases, Université Paris Descartes-Sorbonne, Paris, Île-de-France, France PubMed articlesGoogle scholar articles
  • Naif A Almontashiri Center for Genetics and Inherited Diseases (CGID), Taibah University, Madinah, Al Madinah, Saudi Arabia Research Department, King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia PubMed articlesGoogle scholar articles
  • Julia Baptista Peninsula Medical School, Faculty of Health, University of Plymouth, Plymouth, UK Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, UK PubMed articlesGoogle scholar articles
  • Malak Ali Alghamdi Medical Genetic Division, Pediatric Department, College of Medicine, King Saud University, Riyadh, Saudi Arabia PubMed articlesGoogle scholar articles
  • Sarah Boissel Research Center, University Hospital Centre Sainte-Justine, Montreal H3T 1C5, Québec, Canada PubMed articlesGoogle scholar articles
  • Jelena Martinovic Unit of Fetal Pathology, APHP Hopital Antoine-Beclere, Clamart, Île-de-France, France PubMed articlesGoogle scholar articles
  • Ivan Prokudin Eye Genetics Research Unit, Children's Medical Research Institute, University of Sydney; The Children’s Hospital at Westmead, Sydney Children’s Hospitals Network; and Save Sight Institute, Sydney, New South Wales, Australia PubMed articlesGoogle scholar articles
  • Samantha Holden Department of Cellular Pathology, University Hospital Southampton, Southampton, UK PubMed articlesGoogle scholar articles
  • Hardeep-Singh Mudhar National Specialist Ophthalmic Pathology Service (NSOPS), Dept of Histopathology, Royal Hallamshire Hospital, Sheffield, UK PubMed articlesGoogle scholar articles
  • Lisa G Riley Rare Diseases Functional Genomics Laboratory, The Children’s Hospital at Westmead, Sydney Children’s Hospitals Network, Children's Medical Research Institute, University of Sydney, Sydney, New South Wales, Australia Specialty of Paediatrics and Child Health, Faculty of Medicine and Health, University of Sydney, Sidney, New South Wales, Australia PubMed articlesGoogle scholar articles
  • Christina Nassif Research Center, University Hospital Centre Sainte-Justine, Montreal H3T 1C5, Québec, Canada PubMed articlesGoogle scholar articles
  • Tania Attie-Bitach Laboratory of Embryology and Genetics of Congenital Malformations, INSERM UMR 1163, Imagine Institute for Genetic Diseases, Paris, Île-de-France, France PubMed articlesGoogle scholar articles
  • Marguerite Miguet Research Center, University Hospital Centre Sainte-Justine, Montreal H3T 1C5, Québec, Canada PubMed articlesGoogle scholar articles
  • Marion Delous Equipe GENDEV, Centre de Recherche en Neurosciences de Lyon, Inserm U1028, CNRS UMR5292, Université Lyon 1, Université St Etienne, Lyon, Auvergne-Rhône-Alpes, France PubMed articlesGoogle scholar articles
  • Sylvain Ernest Laboratory of Embryology and Genetics of Congenital Malformations, INSERM UMR 1163, Imagine Institute for Genetic Diseases, Paris, Île-de-France, France PubMed articlesGoogle scholar articles
  • Julie Plaisancié Department of Medical Genetics, Purpan University Hospital, Toulouse, Midi-Pyrénées, France Centre de Référence des Affections Rares en Génétique Ophtalmologique CARGO, Site Constitutif, Purpan University Hospital, Toulouse, Midi-Pyrénées, France INSERM U1214, ToNIC, Université Toulouse III, Toulouse, France PubMed articlesGoogle scholar articles
  • Patrick Calvas Department of Medical Genetics, Purpan University Hospital, Toulouse, Midi-Pyrénées, France Centre de Référence des Affections Rares en Génétique Ophtalmologique CARGO, Site Constitutif, Purpan University Hospital, Toulouse, Midi-Pyrénées, France PubMed articlesGoogle scholar articles
  • Jean-Michel Rozet Laboratory Genetics in Ophthalmology, INSERM UMR1163, Imagine Institute for Genetic Diseases, Université Paris Descartes-Sorbonne, Paris, Île-de-France, France PubMed articlesGoogle scholar articles
  • Arif O Khan Eye Institute, Cleveland Clinic Abu Dhabi, Abu Dhabi, Abu Dhabi, UAE PubMed articlesGoogle scholar articles
  • Fadi F Hamdan Research Center, University Hospital Centre Sainte-Justine, Montreal H3T 1C5, Québec, Canada PubMed articlesGoogle scholar articles
  • Robyn V Jamieson Eye Genetics Research Unit, Children's Medical Research Institute, University of Sydney; The Children’s Hospital at Westmead, Sydney Children’s Hospitals Network; and Save Sight Institute, Sydney, New South Wales, Australia Specialty of Genomic Medicine, Faculty of Medicine and Health and Child and Adolescent Health, University of Sydney, Sydney, New South Wales, Australia PubMed articlesGoogle scholar articles
  • Fowzan S Alkuraya Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh 11533, Saudi Arabia PubMed articlesGoogle scholar articles
  • Jacques L Michaud Departments of Pediatrics and Neurosciences, Université de Montréal, Montreal H3T 1J4, Québec, Canada Departments of Pediatrics and Neurosciences, Université de Montréal, Montreal, Québec, Canada PubMed articlesGoogle scholar articles
  • Nicolas Chassaing Department of Medical Genetics, Purpan University Hospital, Toulouse, Midi-Pyrénées, France Centre de Référence des Affections Rares en Génétique Ophtalmologique CARGO, Site Constitutif, Purpan University Hospital, Toulouse, Midi-Pyrénées, France PubMed articlesGoogle scholar articles
  1. Correspondence to Dr Nicolas Chassaing, Department of Medical Genetics, Hospital Purpan, Toulouse, Midi-Pyrénées, France; chassaing.n{at}chu-toulouse.fr; Dr Jacques L Michaud; jacques.michaud.med{at}ssss.gouv.qc.ca; Dr Fowzan S Alkuraya; FAlKuraya{at}kfshrc.edu.sa
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Citation

Bouasker S, Patel N, Greenlees R, et al
Bi-allelic variants in WNT7B disrupt the development of multiple organs in humans

Publication history

  • Received January 28, 2022
  • Accepted June 11, 2022
  • First published July 5, 2022.
Online issue publication 
February 23, 2023

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