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Ocular Manifestations of Peters Plus-Like Syndrome in 8q21.11 Microdeletion Syndrome.

Chika ShigeyasuMasakazu YamadaYohane MiyataYuri UchiyamaNaomichi MatsumotoYumi KusumiAtsushi Shiraishi
Published in: Cornea (2023)
We identified a de novo 4.6-Mb deletion at 8q21.11q21.13 in a patient with ophthalmic anterior segment dysgenesis and systemic complications, clinically diagnosed as Peters plus-like syndrome. Clinically, the 8q21.11 microdeletion syndrome shows a phenotype similar to that of Peters plus syndrome, and a genetic diagnosis is required.
Keyphrases
  • case report
  • gene expression