Phenotypic Divergence in C19ORF44-Associated Retinal Degeneration despite an Identical Genotype: A Case Report.
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| Title: | Phenotypic Divergence in C19ORF44-Associated Retinal Degeneration despite an Identical Genotype: A Case Report. |
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| Authors: | Ng, Lucas Yan Bin1,2,3 (AUTHOR), Quinodoz, Mathieu4,5,6 (AUTHOR), Tan, Tien-En2,7,8,9,10 (AUTHOR), Tang, Rachael W.C.2,8 (AUTHOR), Rivolta, Carlo4,5,6 (AUTHOR), Fenner, Beau J.1,2,8 (AUTHOR) beau.j.fenner@singhealth.com.sg |
| Source: | Case Reports in Ophthalmology. May2026, Vol. 17 Issue 1, p625-631. 7p. 3 Illustrations. |
| Database: | Academic Search Ultimate |
| FullText | Links: – Type: pdflink Text: Availability: 0 |
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| Header | DbId: asn DbLabel: Academic Search Ultimate An: 195174663 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=asn&AN=195174663 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1159/000552545 Languages: – Code: eng Text: English PhysicalDescription: Pagination: PageCount: 7 StartPage: 625 Titles: – TitleFull: Phenotypic Divergence in C19ORF44-Associated Retinal Degeneration despite an Identical Genotype: A Case Report. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Ng, Lucas Yan Bin – PersonEntity: Name: NameFull: Quinodoz, Mathieu – PersonEntity: Name: NameFull: Tan, Tien-En – PersonEntity: Name: NameFull: Tang, Rachael W.C. – PersonEntity: Name: NameFull: Rivolta, Carlo – PersonEntity: Name: NameFull: Fenner, Beau J. IsPartOfRelationships: – BibEntity: Dates: – D: 15 M: 05 Text: May2026 Type: published Y: 2026 Identifiers: – Type: issn-print Value: 16632699 Numbering: – Type: volume Value: 17 – Type: issue Value: 1 Titles: – TitleFull: Case Reports in Ophthalmology Type: main |
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