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