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Ophthalmic Genetics Volume 43, 2022 - Issue 6: Special Issue: Festschrift: Dedicated to the life and work of A. Linn Murphree, MD
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Research Report

Individuals with heterozygous variants in the Wnt-signalling pathway gene FZD5 delineate a phenotype characterized by isolated coloboma and variable expressivity

Richard Holta Faculty of Health and Life Sciences, Oxford Brookes University, UKView further author information
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David Goudieb East of Scotland Regional Genetics Service, Ninewells Hospital, Dundee, UKView further author information
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Alejandra Damián Verdec Department of Genetics & Genomics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital - Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid, Spain;d Center for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, SpainView further author information
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Alice Gardhame North West Thames Regional Genetics Service, Northwick Park and St Mark’s Hospital, London, UKView further author information
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Francis Ramondf Service de Génétique Clinique et Biologique, CHU de Saint-Etienne, FranceView further author information
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Audrey Putouxg Hospices Civils de Lyon, Service de Génétique, Groupement Hospitalier Est, Lyon, France;h Équipe GENDEV, Centre de Recherche en Neurosciences de Lyon, INSERM U1028 CNRS UMR5292, Université Claude Bernard Lyon 1, Lyon, FranceView further author information
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Ajoy Sarkari Department of Genetics, Nottingham University Hospitals NHS Trust, Nottingham, UKView further author information
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Virginia Clowese North West Thames Regional Genetics Service, Northwick Park and St Mark’s Hospital, London, UKView further author information
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Jill Clayton-Smithj Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, The University of Manchester, Manchester, UK;k Manchester Centre for Genomic Medicine, Saint Mary’s Hospital, Manchester, UKView further author information
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Siddharth Bankaj Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, The University of Manchester, Manchester, UK;k Manchester Centre for Genomic Medicine, Saint Mary’s Hospital, Manchester, UKView further author information
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Laura Cortazar Galarzal Department of Pediatric Ophthalmology, Hospital Universitario Donostia, Donostia-San Sebastián, SpainView further author information
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Gilles Thuretm Department of Ophthalmology, St Etienne University Hospital, Saint-Etienne, FranceView further author information
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Marta Ubeda Ervitil Department of Pediatric Ophthalmology, Hospital Universitario Donostia, Donostia-San Sebastián, SpainView further author information
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Ane Zurutuza Ibargurenn Department of Ophthalmology, Hospital Universitario Donostia, Donostia-San Sebastián, SpainView further author information
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Raquel Sáez Villaverdeo Department of Genetics, Hospital Universitario Donostia, Donostia-San Sebastián, SpainView further author information
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Alejandra Tamayo Duránc Department of Genetics & Genomics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital - Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid, Spain;d Center for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, SpainView further author information
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Carmen Ayusoc Department of Genetics & Genomics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital - Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid, Spain;d Center for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, SpainView further author information
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Dorine A Baxa Faculty of Health and Life Sciences, Oxford Brookes University, UKView further author information
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Julie Plaisanciep Department of Medical Genetics, Purpan University Hospital, Toulouse, France;q Centre de Référence des Affections Rares en Génétique Ophtalmologique CARGO, Site Constitutif, Centre Hospitalier Universitaire (CHU) de Toulouse, FranceView further author information
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Marta Cortonc Department of Genetics & Genomics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital - Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid, Spain;d Center for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, SpainView further author information
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Nicolas Chassaingp Department of Medical Genetics, Purpan University Hospital, Toulouse, France;q Centre de Référence des Affections Rares en Génétique Ophtalmologique CARGO, Site Constitutif, Centre Hospitalier Universitaire (CHU) de Toulouse, FranceView further author information
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Patrick Calvasp Department of Medical Genetics, Purpan University Hospital, Toulouse, France;q Centre de Référence des Affections Rares en Génétique Ophtalmologique CARGO, Site Constitutif, Centre Hospitalier Universitaire (CHU) de Toulouse, FranceView further author information
&
Nicola K Raggea Faculty of Health and Life Sciences, Oxford Brookes University, UK;r West Midlands Regional Clinical Genetics Service and Birmingham Health Partners, Birmingham Women’s and Children’s NHS Foundation Trust, Birmingham, UKCorrespondence[email protected]; [email protected]
View further author information
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Pages 809-816 | Received 14 Sep 2022, Accepted 02 Nov 2022, Published online: 25 Jan 2023

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