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New ZNF469 Mutations in Spanish Siblings With Brittle Cornea Syndrome.

Gonzalo García de OteyzaJorge Fernández EngrobaVictor Charoenrook
Published in: Cornea (2023)
This is the first report of a ZNF469 mutation in a Spanish family causing brittle cornea syndrome. The discovery of this new mutation amplifies the spectrum of ZNF469 variants implicated in this syndrome.
Keyphrases
  • case report
  • small molecule
  • high throughput
  • autism spectrum disorder
  • intellectual disability