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

• Hildegard Nikki Hall ,

  Contributed equally to this work with: Hildegard Nikki Hall, Hemant Bengani

  Roles Formal analysis, Writing – review & editing

  Affiliation MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, United Kingdom

  https://orcid.org/0000-0001-7082-1523

  ⨯
• Hemant Bengani ,

  Contributed equally to this work with: Hildegard Nikki Hall, Hemant Bengani

  Roles Data curation, Formal analysis, Investigation, Methodology, Validation, Writing – review & editing

  Affiliation MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, United Kingdom

  ⨯
• Robert B. Hufnagel,

  Roles Resources

  Affiliation National Eye Institute, National Institutes of Health, Bethesda, MD, United States of America

  ⨯
• Giuseppe Damante,

  Roles Resources

  Affiliation Department of Medicine, University of Udine, Udine, Italy

  ⨯
• Morad Ansari,

  Roles Data curation

  Affiliation South East Scotland Genetic Service, Western General Hospital, Edinburgh, United Kingdom

  ⨯
• Joseph A. Marsh,

  Roles Data curation, Formal analysis, Writing – review & editing

  Affiliation MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, United Kingdom

  https://orcid.org/0000-0003-4132-0628

  ⨯
• Graeme R. Grimes,

  Roles Formal analysis

  Affiliation MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, United Kingdom

  ⨯
• Alex von Kriegsheim,

  Roles Methodology

  Affiliation MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, United Kingdom

  ⨯
• David Moore,

  Roles Resources

  Affiliation South East Scotland Genetic Service, Western General Hospital, Edinburgh, United Kingdom

  ⨯
• Lisa McKie,

  Roles Methodology

  Affiliation MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, United Kingdom

  ⨯
• Jamalia Rahmat,

  Roles Resources

  Affiliation Ophthalmology Department, Hospital Kuala Lumpur, Kuala Lumpur, Malaysia

  ⨯
• Catia Mio,

  Roles Resources

  Affiliation Department of Medicine, University of Udine, Udine, Italy

  ⨯
• Moira Blyth,

  Roles Resources

  Affiliation University of Leeds, St. James’s University Hospital, Leeds, United Kingdom

  ⨯
• Wee Teik Keng,

  Roles Resources

  Affiliation Department of Genetics, Kuala Lumpur Hospital, Kuala Lumpur, Malaysia

  ⨯
• Lily Islam,

  Roles Resources

  Affiliation West Midlands Regional Genetics Service, Birmingham Women’s and Children’s NHS Foundation Trust, Birmingham, England

  ⨯
• Meriel McEntargart,

  Roles Resources

  Affiliation Medical Genetics, St George’s University Hospitals NHS Foundation Trust, London, United Kingdom

  ⨯
• Marcel M. Mannens,

  Roles Resources

  Affiliation Genome Diagnostics laboratory, Department of Clinical Genetics, Amsterdam University Medical Center, Amsterdam, The Netherlands

  ⨯
• Veronica Van Heyningen,

  Roles Conceptualization

  Affiliation MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, United Kingdom

  https://orcid.org/0000-0003-0359-0141

  ⨯
• Joe Rainger ,

  Roles Methodology, Validation, Writing – review & editing

  ¶‡ These authors are joint senior authors on this work.

  Affiliation Roslin Institute, University of Edinburgh, Edinburgh, United Kingdom

  https://orcid.org/0000-0003-1091-5100

  ⨯
• Brian P. Brooks ,

  Roles Investigation, Resources

  ¶‡ These authors are joint senior authors on this work.

  Affiliation National Eye Institute, National Institutes of Health, Bethesda, MD, United States of America

  ⨯
•  [ ... ],
• David R. FitzPatrick

  Roles Conceptualization, Funding acquisition, Project administration, Supervision, Writing – original draft

  * E-mail: david.fitzpatrick@ed.ac.uk

  Affiliation MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, United Kingdom

  https://orcid.org/0000-0003-4861-969X

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