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Monoallelic variants resulting in substitutions of MAB21L1 Arg51 Cause Aniridia and microphthalmia.

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Title: Monoallelic variants resulting in substitutions of MAB21L1 Arg51 Cause Aniridia and microphthalmia.
Authors: Hall HN; MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, United Kingdom., Bengani H; MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, United Kingdom., Hufnagel RB; National Eye Institute, National Institutes of Health, Bethesda, MD, United States of America., Damante G; Department of Medicine, University of Udine, Udine, Italy., Ansari M; South East Scotland Genetic Service, Western General Hospital, Edinburgh, United Kingdom., Marsh JA; MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, United Kingdom., Grimes GR; MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, United Kingdom., Kriegsheim AV; MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, United Kingdom., Moore D; South East Scotland Genetic Service, Western General Hospital, Edinburgh, United Kingdom., McKie L; MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, United Kingdom., Rahmat J; Ophthalmology Department, Hospital Kuala Lumpur, Kuala Lumpur, Malaysia., Mio C; Department of Medicine, University of Udine, Udine, Italy., Blyth M; University of Leeds, St. James's University Hospital, Leeds, United Kingdom., Keng WT; Department of Genetics, Kuala Lumpur Hospital, Kuala Lumpur, Malaysia., Islam L; West Midlands Regional Genetics Service, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, England., McEntargart M; Medical Genetics, St George's University Hospitals NHS Foundation Trust, London, United Kingdom., Mannens MM; Genome Diagnostics laboratory, Department of Clinical Genetics, Amsterdam University Medical Center, Amsterdam, The Netherlands., Heyningen VV; MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, United Kingdom., Rainger J; Roslin Institute, University of Edinburgh, Edinburgh, United Kingdom., Brooks BP; National Eye Institute, National Institutes of Health, Bethesda, MD, United States of America., FitzPatrick DR; MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, United Kingdom.
Source: PloS one [PLoS One] 2022 Nov 22; Vol. 17 (11), pp. e0268149. Date of Electronic Publication: 2022 Nov 22 (Print Publication: 2022).
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
Journal Info: Publisher: Public Library of Science Country of Publication: United States NLM ID: 101285081 Publication Model: eCollection Cited Medium: Internet ISSN: 1932-6203 (Electronic) Linking ISSN: 19326203 NLM ISO Abbreviation: PLoS One Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Monoallelic variants resulting in substitutions of MAB21L1 Arg51 Cause Aniridia and microphthalmia.
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  Data: <searchLink fieldCode="AU" term="%22Hall+HN%22">Hall HN</searchLink>; MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Bengani+H%22">Bengani H</searchLink>; MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Hufnagel+RB%22">Hufnagel RB</searchLink>; National Eye Institute, National Institutes of Health, Bethesda, MD, United States of America.<br /><searchLink fieldCode="AU" term="%22Damante+G%22">Damante G</searchLink>; Department of Medicine, University of Udine, Udine, Italy.<br /><searchLink fieldCode="AU" term="%22Ansari+M%22">Ansari M</searchLink>; South East Scotland Genetic Service, Western General Hospital, Edinburgh, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Marsh+JA%22">Marsh JA</searchLink>; MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Grimes+GR%22">Grimes GR</searchLink>; MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Kriegsheim+AV%22">Kriegsheim AV</searchLink>; MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Moore+D%22">Moore D</searchLink>; South East Scotland Genetic Service, Western General Hospital, Edinburgh, United Kingdom.<br /><searchLink fieldCode="AU" term="%22McKie+L%22">McKie L</searchLink>; MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Rahmat+J%22">Rahmat J</searchLink>; Ophthalmology Department, Hospital Kuala Lumpur, Kuala Lumpur, Malaysia.<br /><searchLink fieldCode="AU" term="%22Mio+C%22">Mio C</searchLink>; Department of Medicine, University of Udine, Udine, Italy.<br /><searchLink fieldCode="AU" term="%22Blyth+M%22">Blyth M</searchLink>; University of Leeds, St. James's University Hospital, Leeds, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Keng+WT%22">Keng WT</searchLink>; Department of Genetics, Kuala Lumpur Hospital, Kuala Lumpur, Malaysia.<br /><searchLink fieldCode="AU" term="%22Islam+L%22">Islam L</searchLink>; West Midlands Regional Genetics Service, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, England.<br /><searchLink fieldCode="AU" term="%22McEntargart+M%22">McEntargart M</searchLink>; Medical Genetics, St George's University Hospitals NHS Foundation Trust, London, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Mannens+MM%22">Mannens MM</searchLink>; Genome Diagnostics laboratory, Department of Clinical Genetics, Amsterdam University Medical Center, Amsterdam, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Heyningen+VV%22">Heyningen VV</searchLink>; MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Rainger+J%22">Rainger J</searchLink>; Roslin Institute, University of Edinburgh, Edinburgh, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Brooks+BP%22">Brooks BP</searchLink>; National Eye Institute, National Institutes of Health, Bethesda, MD, United States of America.<br /><searchLink fieldCode="AU" term="%22FitzPatrick+DR%22">FitzPatrick DR</searchLink>; MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, United Kingdom.
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  Data: <searchLink fieldCode="JN" term="%22101285081%22">PloS one</searchLink> [PLoS One] 2022 Nov 22; Vol. 17 (11), pp. e0268149. <i>Date of Electronic Publication: </i>2022 Nov 22 (<i>Print Publication: </i>2022).
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