NR2F1 haploinsufficiency is associated with optic atrophy, dysmorphism and global developmental delay

Authors

  • Hussam Al-Kateb,

    1. Department of Pathology and Immunology, Washington University School of Medicine, St. Louis, Missouri
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  • Joshua S Shimony,

    1. Mallinckrodt Institute of Radiology, Washington University School of Medicine, St. Louis, Missouri
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  • Marisa Vineyard,

    1. Department of Pediatrics, Division of Genetics and Genomic Medicine, Washington University School of Medicine, St. Louis, Missouri
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  • Linda Manwaring,

    1. Department of Pediatrics, Division of Genetics and Genomic Medicine, Washington University School of Medicine, St. Louis, Missouri
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  • Shashikant Kulkarni,

    1. Department of Pathology and Immunology, Washington University School of Medicine, St. Louis, Missouri
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  • Marwan Shinawi

    Corresponding author
    1. Department of Pediatrics, Division of Genetics and Genomic Medicine, Washington University School of Medicine, St. Louis, Missouri
    • Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, One Children's Place, Northwest Tower, 9132, Campus Box 8116, St. Louis, MO 63110.
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  • How to Cite this Article: Al-Kateb H, Shimony JS, Vineyard M, Manwaring L, Kulkarni S, Shinawi M. 2013. NR2F1 haploinsufficiency is associated with optic atrophy, dysmorphism and global developmental delay. Am J Med Genet Part A 161A:377–381.

  • All authors have no conflict of interest to declare.

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