COG5-congenital disorder of glycosylation diagnosed by whole genome sequencing in siblings with unexplained optic atrophy, macular atrophy, and developmental delay: case report.
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| Title: | COG5-congenital disorder of glycosylation diagnosed by whole genome sequencing in siblings with unexplained optic atrophy, macular atrophy, and developmental delay: case report. |
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| Authors: | Granger K; Department of Surgery, Vision Center, Children's Hospital Los Angeles, Los Angeles, CA, United States., Do C; Department of Ophthalmology, Roski Eye Institute, Keck School of Medicine, University of Southern California, Los Angeles, CA, United States., Quindipan C; Department of Pathology and Laboratory Medicine, Children's Hospital Los Angeles, Los Angeles, CA, United States., Schmidt R; Department of Pathology and Laboratory Medicine, Children's Hospital Los Angeles, Los Angeles, CA, United States.; Department of Pathology, Keck School of Medicine, University of Southern California, Los Angeles, CA, United States., Borchert MS; Department of Surgery, Vision Center, Children's Hospital Los Angeles, Los Angeles, CA, United States.; Department of Ophthalmology, Roski Eye Institute, Keck School of Medicine, University of Southern California, Los Angeles, CA, United States., Nagiel A; Department of Surgery, Vision Center, Children's Hospital Los Angeles, Los Angeles, CA, United States.; Department of Ophthalmology, Roski Eye Institute, Keck School of Medicine, University of Southern California, Los Angeles, CA, United States., Chang MY; Department of Surgery, Vision Center, Children's Hospital Los Angeles, Los Angeles, CA, United States.; Department of Ophthalmology, Roski Eye Institute, Keck School of Medicine, University of Southern California, Los Angeles, CA, United States. |
| Source: | Frontiers in neurology [Front Neurol] 2026 Jun 01; Vol. 17, pp. 1840802. Date of Electronic Publication: 2026 Jun 01 (Print Publication: 2026). |
| Publication Type: | Case Reports; Journal Article |
| Journal Info: | Publisher: Frontiers Research Foundation Country of Publication: Switzerland NLM ID: 101546899 Publication Model: eCollection Cited Medium: Print ISSN: 1664-2295 (Print) Linking ISSN: 16642295 NLM ISO Abbreviation: Front Neurol Subsets: PubMed not MEDLINE |
| Database: | MEDLINE Ultimate |
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| ISSN: | 1664-2295 |
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| DOI: | 10.3389/fneur.2026.1840802 |
