Pathogenic Deep Intronic Variant in CNGB3 Identified From Whole-Genome Sequencing in an Unsolved Case of Patient Affected With Achromatopsia.
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| Title: | Pathogenic Deep Intronic Variant in CNGB3 Identified From Whole-Genome Sequencing in an Unsolved Case of Patient Affected With Achromatopsia. |
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| Authors: | Gregory MR; Indiana University School of Medicine, Riley Hospital for Children, Indianapolis, Indiana, USA., Liaqat K; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana, USA.; Undiagnosed Rare Disease Clinic, Indiana University School of Medicine, Indianapolis, Indiana, USA., Treat K; Indiana University School of Medicine, Riley Hospital for Children, Indianapolis, Indiana, USA.; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana, USA.; Undiagnosed Rare Disease Clinic, Indiana University School of Medicine, Indianapolis, Indiana, USA., Haider KM; Department of Ophthalmology, Indiana University School of Medicine, Indianapolis, Indiana, USA., Vetrini F; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana, USA.; Undiagnosed Rare Disease Clinic, Indiana University School of Medicine, Indianapolis, Indiana, USA., Conboy E; Indiana University School of Medicine, Riley Hospital for Children, Indianapolis, Indiana, USA.; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana, USA.; Undiagnosed Rare Disease Clinic, Indiana University School of Medicine, Indianapolis, Indiana, USA. |
| Source: | Case reports in genetics [Case Rep Genet] 2025 May 27; Vol. 2025, pp. 3466358. Date of Electronic Publication: 2025 May 27 (Print Publication: 2025). |
| Publication Type: | Case Reports; Journal Article |
| Journal Info: | Publisher: Wiley Country of Publication: United States NLM ID: 101583302 Publication Model: eCollection Cited Medium: Print ISSN: 2090-6544 (Print) Linking ISSN: 20906552 NLM ISO Abbreviation: Case Rep Genet Subsets: PubMed not MEDLINE |
| Database: | MEDLINE Ultimate |
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| ISSN: | 2090-6544 |
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| DOI: | 10.1155/crig/3466358 |
