Exome Analysis Identified a Novel Mutation in the RBP4 Gene in a Consanguineous Pedigree with Retinal Dystrophy and Developmental Abnormalities

• Catherine Cukras,

  Affiliation National Eye Institute, NIH, Bethesda, Maryland, United States of America

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• Terry Gaasterland,

  Affiliation Scripps Institution of Oceanography and Institute of Genomic Medicine, University of California San Diego, La Jolla, California, United States of America

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• Pauline Lee,

  Affiliation The Scripps Research Institute, La Jolla, California, United States of America

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• Harini V. Gudiseva,

  Affiliation Shiley Eye Center, University of California San Diego, La Jolla, California, United States of America

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• Venkata R. M. Chavali,

  Affiliation Shiley Eye Center, University of California San Diego, La Jolla, California, United States of America

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• Raghu Pullakhandam,

  Affiliation National Institute of Nutrition, Hyderabad, AP, India

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• Bruno Maranhao,

  Affiliation Shiley Eye Center, University of California San Diego, La Jolla, California, United States of America

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• Lee Edsall,

  Affiliation Scripps Institution of Oceanography and Institute of Genomic Medicine, University of California San Diego, La Jolla, California, United States of America

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• Sandra Soares,

  Affiliation Scripps Institution of Oceanography and Institute of Genomic Medicine, University of California San Diego, La Jolla, California, United States of America

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• G. Bhanuprakash Reddy,

  Affiliation National Institute of Nutrition, Hyderabad, AP, India

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• Paul A. Sieving,

  Affiliations National Eye Institute, NIH, Bethesda, Maryland, United States of America, National Institute of Deafness and Communication Disorders, NIH, Bethesda, Maryland, United States of America

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• Radha Ayyagari

  * E-mail: rayyagari@ucsd.edu

  Affiliation Shiley Eye Center, University of California San Diego, La Jolla, California, United States of America

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