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Individuals with heterozygous variants in the Wnt-signalling pathway gene FZD5 delineate a phenotype characterized by isolated coloboma and variable expressivity.
Holt, Richard; Goudie, David; Verde, Alejandra Damián; Gardham, Alice; Ramond, Francis; Putoux, Audrey; Sarkar, Ajoy; Clowes, Virginia; Clayton-Smith, Jill; Banka, Siddharth; Cortazar Galarza, Laura; Thuret, Gilles; Ubeda Erviti, Marta; Zurutuza Ibarguren, Ane; Sáez Villaverde, Raquel; Tamayo Durán, Alejandra; Ayuso, Carmen; Bax, Dorine A; Plaisancie, Julie; Corton, Marta; Chassaing, Nicolas; Calvas, Patrick; Ragge, Nicola K.
Afiliação
  • Holt R; Faculty of Health and Life Sciences, Oxford Brookes University, UK.
  • Goudie D; East of Scotland Regional Genetics Service, Ninewells Hospital, Dundee, UK.
  • Verde AD; Department of Genetics & Genomics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital - Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid, Spain.
  • Gardham A; Center for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain.
  • Ramond F; North West Thames Regional Genetics Service, Northwick Park and St Mark's Hospital, London, UK.
  • Putoux A; Service de Génétique Clinique et Biologique, CHU de Saint-Etienne, France.
  • Sarkar A; Hospices Civils de Lyon, Service de Génétique, Groupement Hospitalier Est, Lyon, France.
  • Clowes V; Équipe GENDEV, Centre de Recherche en Neurosciences de Lyon, INSERM U1028 CNRS UMR5292, Université Claude Bernard Lyon 1, Lyon, France.
  • Clayton-Smith J; Department of Genetics, Nottingham University Hospitals NHS Trust, Nottingham, UK.
  • Banka S; North West Thames Regional Genetics Service, Northwick Park and St Mark's Hospital, London, UK.
  • Cortazar Galarza L; Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, The University of Manchester, Manchester, UK.
  • Thuret G; Manchester Centre for Genomic Medicine, Saint Mary's Hospital, Manchester, UK.
  • Ubeda Erviti M; Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, The University of Manchester, Manchester, UK.
  • Zurutuza Ibarguren A; Manchester Centre for Genomic Medicine, Saint Mary's Hospital, Manchester, UK.
  • Sáez Villaverde R; Department of Pediatric Ophthalmology, Hospital Universitario Donostia, Donostia-San Sebastián, Spain.
  • Tamayo Durán A; Department of Ophthalmology, St Etienne University Hospital, Saint-Etienne, France.
  • Ayuso C; Department of Pediatric Ophthalmology, Hospital Universitario Donostia, Donostia-San Sebastián, Spain.
  • Bax DA; Department of Ophthalmology, Hospital Universitario Donostia, Donostia-San Sebastián, Spain.
  • Plaisancie J; Department of Genetics, Hospital Universitario Donostia, Donostia-San Sebastián, Spain.
  • Corton M; Department of Genetics & Genomics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital - Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid, Spain.
  • Chassaing N; Center for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain.
  • Calvas P; Department of Genetics & Genomics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital - Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid, Spain.
  • Ragge NK; Center for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain.
Ophthalmic Genet ; 43(6): 809-816, 2022 12.
Article em En | MEDLINE | ID: mdl-36695497
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Anoftalmia / Coloboma / Microftalmia Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Humans Idioma: En Ano de publicação: 2022 Tipo de documento: Article
Texto completo
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Anoftalmia / Coloboma / Microftalmia Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Humans Idioma: En Ano de publicação: 2022 Tipo de documento: Article