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. |
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| 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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| ISSN: | 1932-6203 |
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| DOI: | 10.1371/journal.pone.0268149 |
