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

descriptionPublicationkeyboard_double_arrow_right Article 08 Jan 2013 English Publisher:WileyJournal:American Journal of Medical Genetics Part A, volume 161, pages 377-381 (issn: 1552-4825, eissn: 1552-4833,

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Authors: Hussam, Al-Kateb; Joshua S, Shimony; Marisa, Vineyard; Linda, Manwaring; Shashikant, Kulkarni; Marwan, Shinawi;

doi: 10.1002/ajmg.a.35650

pmid: 23300014

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

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Related Organizations

University of Mary
United States
Washington University in St. Louis
United States

Keywords

COUP Transcription Factor I, Developmental Disabilities, Haploinsufficiency, Polymorphism, Single Nucleotide, Optic Atrophy, Molecular Diagnostic Techniques, Chromosomes, Human, Pair 5, Humans, Abnormalities, Multiple, Chromosome Deletion, Child, Oligonucleotide Array Sequence Analysis

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