COG5-congenital disorder of glycosylation diagnosed by whole genome sequencing in siblings with unexplained optic atrophy, macular atrophy, and developmental delay: case report - Top-Institutions - MDSpire

COG5-congenital disorder of glycosylation diagnosed by whole genome sequencing in siblings with unexplained optic atrophy, macular atrophy, and developmental delay: case report

  • By

  • Katherine Granger

  • Catherine Do

  • Catherine Quindipan

  • Ryan Schmidt

  • Mark S. Borchert

  • Aaron Nagiel

  • Melinda Y. Chang

  • June 1, 2026

  • 0 min

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Top Institutions in Ophthalmology

Brief introduction explaining scope and methodology.

  • #1

    Children’s Hospital Los Angeles
    Children’s Hospital Los Angeles

    Los Angeles, CA

    Key Differentiators

    • Genetics

  • #2

    Children's Hospital of Nanjing Medical University
    Children's Hospital of Nanjing Medical University

    Nanjing, Jiangsu

    Key Differentiators

    • Pediatrics

  • #3

    Duke University
    Duke University

    Durham, NC

    Key Differentiators

    • Genetics

  • #4

    Oteen Veterans Administration Hospital
    Oteen Veterans Administration Hospital

    Asheville, NC

    Key Differentiators

    • Veterans Health

  • #5

    Columbia University Department of Psychiatry
    Columbia University Department of Psychiatry

    New York, NY

    Key Differentiators

    • Psychiatry

Original Source(s)

COG5-congenital disorder of glycosylation diagnosed by whole genome sequencing in siblings with unexplained optic atrophy, macular atrophy, and developmental delay: case report

  • by Katherine Granger, Catherine Do, Catherine Quindipan, Ryan Schmidt, Mark S. Borchert, Aaron Nagiel, Melinda Y. Chang

  • June 1, 2026

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