Papillorenal Syndrome-Causing Missense Mutations in PAX2/Pax2 Result in Hypomorphic Alleles in Mouse and Human

• Ramakrishna P. Alur,

  Affiliation Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Department of Health and Human Services, Bethesda, Maryland, United States of America

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• Camasamudram Vijayasarathy,

  Affiliation Section for Translational Research in Retinal and Macular Degeneration, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Department of Health and Human Services, Bethesda, Maryland, United States of America

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• Jacob D. Brown,

  Affiliations Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Department of Health and Human Services, Bethesda, Maryland, United States of America, Department of Biochemistry, Molecular and Cellular Biology, Georgetown University School of Medicine, Washington, D.C., United States of America

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• Mohit Mehtani,

  Affiliation Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Department of Health and Human Services, Bethesda, Maryland, United States of America

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• Ighovie F. Onojafe,

  Affiliation Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Department of Health and Human Services, Bethesda, Maryland, United States of America

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• Yuri V. Sergeev,

  Affiliation Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Department of Health and Human Services, Bethesda, Maryland, United States of America

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• Elangovan Boobalan,

  Affiliation Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Department of Health and Human Services, Bethesda, Maryland, United States of America

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• MaryPat Jones,

  Affiliation National Human Genome Research Institute, National Institutes of Health, Department of Health and Human Services, Bethesda, Maryland, United States of America

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• Ke Tang,

  Affiliation Department of Molecular and Cellular Biology, Baylor College of Medicine, Houston, Texas, United States of America

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• Haiquan Liu,

  Affiliation School of Optometry and Vision Science Program, University of California Berkeley, Berkeley, California, United States of America

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• Chun-hong Xia,

  Affiliation School of Optometry and Vision Science Program, University of California Berkeley, Berkeley, California, United States of America

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• Xiaohua Gong,

  Affiliation School of Optometry and Vision Science Program, University of California Berkeley, Berkeley, California, United States of America

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• Brian P. Brooks

  * E-mail: brooksb@mail.nih.gov

  Affiliations Section for Translational Research in Retinal and Macular Degeneration, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Department of Health and Human Services, Bethesda, Maryland, United States of America, Department of Biochemistry, Molecular and Cellular Biology, Georgetown University School of Medicine, Washington, D.C., United States of America

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