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.
Saved in:
| 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 |
|
Full text is not displayed to guests.
Login for full access.
|
|
| ISSN: | 1552-4833 |
|---|---|
| DOI: | 10.1002/ajmg.a.62569 |
