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NR2F1 haploinsufficiency is associated with optic atrophy, dysmorphism and global developmental delay.
Al-Kateb, Hussam; Shimony, Joshua S; Vineyard, Marisa; Manwaring, Linda; Kulkarni, Shashikant; Shinawi, Marwan.
Affiliation
  • Al-Kateb H; Department of Pathology and Immunology, Washington University School of Medicine, St Louis, Missouri 63110, USA.
Am J Med Genet A ; 161A(2): 377-81, 2013 Feb.
Article in En | MEDLINE | ID: mdl-23300014
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Abnormalities, Multiple / Developmental Disabilities / Optic Atrophy / COUP Transcription Factor I / Haploinsufficiency Type of study: Diagnostic_studies / Risk_factors_studies Limits: Child / Humans Language: En Journal: Am J Med Genet A Journal subject: GENETICA MEDICA Year: 2013 Type: Article Affiliation country: United States
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Abnormalities, Multiple / Developmental Disabilities / Optic Atrophy / COUP Transcription Factor I / Haploinsufficiency Type of study: Diagnostic_studies / Risk_factors_studies Limits: Child / Humans Language: En Journal: Am J Med Genet A Journal subject: GENETICA MEDICA Year: 2013 Type: Article Affiliation country: United States