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A severe case of Bosch-Boonstra-Schaaf optic atrophy syndrome with a novel description of coloboma and septo-optic dysplasia, owing to a start codon variant in the NR2F1 gene.

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Title: A severe case of Bosch-Boonstra-Schaaf optic atrophy syndrome with a novel description of coloboma and septo-optic dysplasia, owing to a start codon variant in the NR2F1 gene.
Authors: Gazdagh G; Wessex Clinical Genetics Service, Princess Anne Hospital, University Hospital Southampton NHS Trust, Southampton, UK., Mawby R; Human Development and Health, Faculty of Medicine, University of Southampton, Southampton, UK., Self JE; Clinical and Experimental Sciences Faculty of Medicine, University of Southampton, Southampton, UK.; Department of Ophthalmology, University Hospital Southampton NHS Trust, Southampton, UK., Baralle D; Wessex Clinical Genetics Service, Princess Anne Hospital, University Hospital Southampton NHS Trust, Southampton, UK.; Human Development and Health, Faculty of Medicine, University of Southampton, Southampton, UK.
Corporate Authors: Deciphering Developmental Disorders Study; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, UK.
Source: American journal of medical genetics. Part A [Am J Med Genet A] 2022 Mar; Vol. 188 (3), pp. 900-906. Date of Electronic Publication: 2021 Nov 17.
Publication Type: Case Reports; Research Support, Non-U.S. Gov't; Journal Article
Journal Info: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: A severe case of Bosch-Boonstra-Schaaf optic atrophy syndrome with a novel description of coloboma and septo-optic dysplasia, owing to a start codon variant in the NR2F1 gene.
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  Data: <searchLink fieldCode="AU" term="%22Gazdagh+G%22">Gazdagh G</searchLink>; Wessex Clinical Genetics Service, Princess Anne Hospital, University Hospital Southampton NHS Trust, Southampton, UK.<br /><searchLink fieldCode="AU" term="%22Mawby+R%22">Mawby R</searchLink>; Human Development and Health, Faculty of Medicine, University of Southampton, Southampton, UK.<br /><searchLink fieldCode="AU" term="%22Self+JE%22">Self JE</searchLink>; Clinical and Experimental Sciences Faculty of Medicine, University of Southampton, Southampton, UK.; Department of Ophthalmology, University Hospital Southampton NHS Trust, Southampton, UK.<br /><searchLink fieldCode="AU" term="%22Baralle+D%22">Baralle D</searchLink>; Wessex Clinical Genetics Service, Princess Anne Hospital, University Hospital Southampton NHS Trust, Southampton, UK.; Human Development and Health, Faculty of Medicine, University of Southampton, Southampton, UK.
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  Data: <searchLink fieldCode="CA" term="%22Deciphering+Developmental+Disorders+Study%22">Deciphering Developmental Disorders Study</searchLink>; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, UK.
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  Data: <searchLink fieldCode="JN" term="%22101235741%22">American journal of medical genetics. Part A</searchLink> [Am J Med Genet A] 2022 Mar; Vol. 188 (3), pp. 900-906. <i>Date of Electronic Publication: </i>2021 Nov 17.
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        Value: 10.1002/ajmg.a.62569
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        Text: English
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      – TitleFull: A severe case of Bosch-Boonstra-Schaaf optic atrophy syndrome with a novel description of coloboma and septo-optic dysplasia, owing to a start codon variant in the NR2F1 gene.
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              Text: 2022 Mar
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            – TitleFull: American journal of medical genetics. Part A
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