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

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Title: Bi-allelic variants in WNT7B disrupt the development of multiple organs in humans.
Authors: Bouasker S; Research Center, University Hospital Centre Sainte-Justine, Montreal H3T 1C5, Québec, Canada., Patel N; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Greenlees R; 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., Wellesley D; Wessex Clinical Genetic Service, University Hospital Southampton, Southampton, UK., Fares Taie L; Laboratory Genetics in Ophthalmology, INSERM UMR1163, Imagine Institute for Genetic Diseases, Université Paris Descartes-Sorbonne, Paris, Île-de-France, France., Almontashiri NA; Center for Genetics and Inherited Diseases (CGID), Taibah University, Madinah, Al Madinah, Saudi Arabia.; Research Department, King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia., Baptista J; Peninsula Medical School, Faculty of Health, University of Plymouth, Plymouth, UK.; Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, UK., Alghamdi MA; Medical Genetic Division, Pediatric Department, College of Medicine, King Saud University, Riyadh, Saudi Arabia., Boissel S; Research Center, University Hospital Centre Sainte-Justine, Montreal H3T 1C5, Québec, Canada., Martinovic J; Unit of Fetal Pathology, APHP Hopital Antoine-Beclere, Clamart, Île-de-France, France., Prokudin I; 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., Holden S; Department of Cellular Pathology, University Hospital Southampton, Southampton, UK., Mudhar HS; National Specialist Ophthalmic Pathology Service (NSOPS), Dept of Histopathology, Royal Hallamshire Hospital, Sheffield, UK., Riley LG; 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., Nassif C; Research Center, University Hospital Centre Sainte-Justine, Montreal H3T 1C5, Québec, Canada., Attie-Bitach T; Laboratory of Embryology and Genetics of Congenital Malformations, INSERM UMR 1163, Imagine Institute for Genetic Diseases, Paris, Île-de-France, France., Miguet M; Research Center, University Hospital Centre Sainte-Justine, Montreal H3T 1C5, Québec, Canada., Delous M; Equipe GENDEV, Centre de Recherche en Neurosciences de Lyon, Inserm U1028, CNRS UMR5292, Université Lyon 1, Université St Etienne, Lyon, Auvergne-Rhône-Alpes, France., Ernest S; Laboratory of Embryology and Genetics of Congenital Malformations, INSERM UMR 1163, Imagine Institute for Genetic Diseases, Paris, Île-de-France, France., Plaisancié J; 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., Calvas P; 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., Rozet JM; Laboratory Genetics in Ophthalmology, INSERM UMR1163, Imagine Institute for Genetic Diseases, Université Paris Descartes-Sorbonne, Paris, Île-de-France, France., Khan AO; Eye Institute, Cleveland Clinic Abu Dhabi, Abu Dhabi, Abu Dhabi, UAE., Hamdan FF; Research Center, University Hospital Centre Sainte-Justine, Montreal H3T 1C5, Québec, Canada., Jamieson RV; 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., Alkuraya FS; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia chassaing.n@chu-toulouse.fr jacques.michaud.med@ssss.gouv.qc.ca FAlKuraya@kfshrc.edu.sa.; Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh 11533, Saudi Arabia., Michaud JL; Departments of Pediatrics and Neurosciences, Université de Montréal, Montreal H3T 1J4, Québec, Canada chassaing.n@chu-toulouse.fr jacques.michaud.med@ssss.gouv.qc.ca FAlKuraya@kfshrc.edu.sa.; Departments of Pediatrics and Neurosciences, Université de Montréal, Montreal, Québec, Canada., Chassaing N; Department of Medical Genetics, Purpan University Hospital, Toulouse, Midi-Pyrénées, France chassaing.n@chu-toulouse.fr jacques.michaud.med@ssss.gouv.qc.ca FAlKuraya@kfshrc.edu.sa.; Centre de Référence des Affections Rares en Génétique Ophtalmologique CARGO, Site Constitutif, Purpan University Hospital, Toulouse, Midi-Pyrénées, France.
Source: Journal of medical genetics [J Med Genet] 2023 Mar; Vol. 60 (3), pp. 294-300. Date of Electronic Publication: 2022 Jul 05.
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
Journal Info: Publisher: British Medical Association Country of Publication: England NLM ID: 2985087R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1468-6244 (Electronic) Linking ISSN: 00222593 NLM ISO Abbreviation: J Med Genet Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Bi-allelic variants in WNT7B disrupt the development of multiple organs in humans.
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  Data: <searchLink fieldCode="AU" term="%22Bouasker+S%22">Bouasker S</searchLink>; Research Center, University Hospital Centre Sainte-Justine, Montreal H3T 1C5, Québec, Canada.<br /><searchLink fieldCode="AU" term="%22Patel+N%22">Patel N</searchLink>; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.<br /><searchLink fieldCode="AU" term="%22Greenlees+R%22">Greenlees R</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Wellesley+D%22">Wellesley D</searchLink>; Wessex Clinical Genetic Service, University Hospital Southampton, Southampton, UK.<br /><searchLink fieldCode="AU" term="%22Fares+Taie+L%22">Fares Taie L</searchLink>; Laboratory Genetics in Ophthalmology, INSERM UMR1163, Imagine Institute for Genetic Diseases, Université Paris Descartes-Sorbonne, Paris, Île-de-France, France.<br /><searchLink fieldCode="AU" term="%22Almontashiri+NA%22">Almontashiri NA</searchLink>; Center for Genetics and Inherited Diseases (CGID), Taibah University, Madinah, Al Madinah, Saudi Arabia.; Research Department, King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia.<br /><searchLink fieldCode="AU" term="%22Baptista+J%22">Baptista J</searchLink>; Peninsula Medical School, Faculty of Health, University of Plymouth, Plymouth, UK.; Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, UK.<br /><searchLink fieldCode="AU" term="%22Alghamdi+MA%22">Alghamdi MA</searchLink>; Medical Genetic Division, Pediatric Department, College of Medicine, King Saud University, Riyadh, Saudi Arabia.<br /><searchLink fieldCode="AU" term="%22Boissel+S%22">Boissel S</searchLink>; Research Center, University Hospital Centre Sainte-Justine, Montreal H3T 1C5, Québec, Canada.<br /><searchLink fieldCode="AU" term="%22Martinovic+J%22">Martinovic J</searchLink>; Unit of Fetal Pathology, APHP Hopital Antoine-Beclere, Clamart, Île-de-France, France.<br /><searchLink fieldCode="AU" term="%22Prokudin+I%22">Prokudin I</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Holden+S%22">Holden S</searchLink>; Department of Cellular Pathology, University Hospital Southampton, Southampton, UK.<br /><searchLink fieldCode="AU" term="%22Mudhar+HS%22">Mudhar HS</searchLink>; National Specialist Ophthalmic Pathology Service (NSOPS), Dept of Histopathology, Royal Hallamshire Hospital, Sheffield, UK.<br /><searchLink fieldCode="AU" term="%22Riley+LG%22">Riley LG</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Nassif+C%22">Nassif C</searchLink>; Research Center, University Hospital Centre Sainte-Justine, Montreal H3T 1C5, Québec, Canada.<br /><searchLink fieldCode="AU" term="%22Attie-Bitach+T%22">Attie-Bitach T</searchLink>; Laboratory of Embryology and Genetics of Congenital Malformations, INSERM UMR 1163, Imagine Institute for Genetic Diseases, Paris, Île-de-France, France.<br /><searchLink fieldCode="AU" term="%22Miguet+M%22">Miguet M</searchLink>; Research Center, University Hospital Centre Sainte-Justine, Montreal H3T 1C5, Québec, Canada.<br /><searchLink fieldCode="AU" term="%22Delous+M%22">Delous M</searchLink>; Equipe GENDEV, Centre de Recherche en Neurosciences de Lyon, Inserm U1028, CNRS UMR5292, Université Lyon 1, Université St Etienne, Lyon, Auvergne-Rhône-Alpes, France.<br /><searchLink fieldCode="AU" term="%22Ernest+S%22">Ernest S</searchLink>; Laboratory of Embryology and Genetics of Congenital Malformations, INSERM UMR 1163, Imagine Institute for Genetic Diseases, Paris, Île-de-France, France.<br /><searchLink fieldCode="AU" term="%22Plaisancié+J%22">Plaisancié J</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Calvas+P%22">Calvas P</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Rozet+JM%22">Rozet JM</searchLink>; Laboratory Genetics in Ophthalmology, INSERM UMR1163, Imagine Institute for Genetic Diseases, Université Paris Descartes-Sorbonne, Paris, Île-de-France, France.<br /><searchLink fieldCode="AU" term="%22Khan+AO%22">Khan AO</searchLink>; Eye Institute, Cleveland Clinic Abu Dhabi, Abu Dhabi, Abu Dhabi, UAE.<br /><searchLink fieldCode="AU" term="%22Hamdan+FF%22">Hamdan FF</searchLink>; Research Center, University Hospital Centre Sainte-Justine, Montreal H3T 1C5, Québec, Canada.<br /><searchLink fieldCode="AU" term="%22Jamieson+RV%22">Jamieson RV</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Alkuraya+FS%22">Alkuraya FS</searchLink>; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia chassaing.n@chu-toulouse.fr jacques.michaud.med@ssss.gouv.qc.ca FAlKuraya@kfshrc.edu.sa.; Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh 11533, Saudi Arabia.<br /><searchLink fieldCode="AU" term="%22Michaud+JL%22">Michaud JL</searchLink>; Departments of Pediatrics and Neurosciences, Université de Montréal, Montreal H3T 1J4, Québec, Canada chassaing.n@chu-toulouse.fr jacques.michaud.med@ssss.gouv.qc.ca FAlKuraya@kfshrc.edu.sa.; Departments of Pediatrics and Neurosciences, Université de Montréal, Montreal, Québec, Canada.<br /><searchLink fieldCode="AU" term="%22Chassaing+N%22">Chassaing N</searchLink>; Department of Medical Genetics, Purpan University Hospital, Toulouse, Midi-Pyrénées, France chassaing.n@chu-toulouse.fr jacques.michaud.med@ssss.gouv.qc.ca FAlKuraya@kfshrc.edu.sa.; Centre de Référence des Affections Rares en Génétique Ophtalmologique CARGO, Site Constitutif, Purpan University Hospital, Toulouse, Midi-Pyrénées, France.
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