Identification of a Novel ZNF469 Mutation in a Pakistani Family With Brittle Cornea Syndrome

Conclusions: This is the first report of a ZNF469 homozygous mutation causing a BCS phenotype in a consanguineous Pakistani family. Our data extend the mutation spectrum of ZNF469 variants implicated in BCS.
Source: Cornea - Category: Opthalmology Tags: Clinical Science Source Type: research