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

Abstract

American Journal of Medical Genetics Part AVolume 161, Issue 2 p. 377-381 Research Letter NR2F1 haploinsufficiency is associated with optic atrophy, dysmorphism and global developmental delay†‡ Hussam Al-Kateb, Hussam Al-Kateb Department of Pathology and Immunology, Washington University School of Medicine, St. Louis, MissouriSearch for more papers by this authorJoshua S Shimony, Joshua S Shimony Mallinckrodt Institute of Radiology, Washington University School of Medicine, St. Louis, MissouriSearch for more papers by this authorMarisa Vineyard, Marisa Vineyard Department of Pediatrics, Division of Genetics and Genomic Medicine, Washington University School of Medicine, St. Louis, MissouriSearch for more papers by this authorLinda Manwaring, Linda Manwaring Department of Pediatrics, Division of Genetics and Genomic Medicine, Washington University School of Medicine, St. Louis, MissouriSearch for more papers by this authorShashikant Kulkarni, Shashikant Kulkarni Department of Pathology and Immunology, Washington University School of Medicine, St. Louis, MissouriSearch for more papers by this authorMarwan Shinawi, Corresponding Author Marwan Shinawi shinawi_m@kids.wustl.edu Department of Pediatrics, Division of Genetics and Genomic Medicine, Washington University School of Medicine, St. Louis, MissouriDivision 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.Search for more papers by this author Hussam Al-Kateb, Hussam Al-Kateb Department of Pathology and Immunology, Washington University School of Medicine, St. Louis, MissouriSearch for more papers by this authorJoshua S Shimony, Joshua S Shimony Mallinckrodt Institute of Radiology, Washington University School of Medicine, St. Louis, MissouriSearch for more papers by this authorMarisa Vineyard, Marisa Vineyard Department of Pediatrics, Division of Genetics and Genomic Medicine, Washington University School of Medicine, St. Louis, MissouriSearch for more papers by this authorLinda Manwaring, Linda Manwaring Department of Pediatrics, Division of Genetics and Genomic Medicine, Washington University School of Medicine, St. Louis, MissouriSearch for more papers by this authorShashikant Kulkarni, Shashikant Kulkarni Department of Pathology and Immunology, Washington University School of Medicine, St. Louis, MissouriSearch for more papers by this authorMarwan Shinawi, Corresponding Author Marwan Shinawi shinawi_m@kids.wustl.edu Department of Pediatrics, Division of Genetics and Genomic Medicine, Washington University School of Medicine, St. Louis, MissouriDivision 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.Search for more papers by this author First published: 08 January 2013 https://doi.org/10.1002/ajmg.a.35650Citations: 31 † 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. Read the full textAboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onFacebookTwitterLinked InRedditWechat Citing Literature Volume161, Issue2February 2013Pages 377-381 RelatedInformation