title: NR2F1 haploinsufficiency is associated with optic atrophy, dysmorphism and global developmental delay.
authors.affiliation: Department of Pathology and Immunology, Washington University School of Medicine, St Louis, Missouri 63110, USA.
authors.forename: Hussam
authors.initials: H
authors.lastname: Al-Kateb
authors.forename: Joshua S
authors.initials: JS
authors.lastname: Shimony
authors.forename: Marisa
authors.initials: M
authors.lastname: Vineyard
authors.forename: Linda
authors.initials: L
authors.lastname: Manwaring
authors.forename: Shashikant
authors.initials: S
authors.lastname: Kulkarni
authors.forename: Marwan
authors.initials: M
authors.lastname: Shinawi
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics; D051838:COUP Transcription Factor I / Q000235:genetics*; D002648:Child; D002872:Chromosome Deletion; D002895:Chromosomes, Human, Pair 5; D002658:Developmental Disabilities / Q000175:diagnosis* / Q000235:genetics; D057895:Haploinsufficiency; D006801:Humans; D025202:Molecular Diagnostic Techniques; D020411:Oligonucleotide Array Sequence Analysis; D009896:Optic Atrophy / Q000175:diagnosis* / Q000235:genetics; D020641:Polymorphism, Single Nucleotide
chemical_list: D051838:COUP Transcription Factor I; C497589:NR2F1 protein, human