New ZNF469 Mutations in Spanish Siblings With Brittle Cornea Syndrome.
Gonzalo García de OteyzaJorge Fernández EngrobaVictor CharoenrookPublished 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.