1. Individuals with heterozygous variants in the Wnt-signalling pathway gene FZD5 delineate a phenotype characterized by isolated coloboma and variable expressivity. (2nd November 2022) Authors: Holt, Richard; Goudie, David; Verde, Alejandra Damián; Gardham, Alice; Ramond, Francis; Putoux, Audrey; Sarkar, Ajoy; Clowes, Virginia; Clayton-Smith, Jill; Banka, Siddharth; Cortazar Galarza, Laura; Thuret, Gilles; Ubeda Erviti, Marta; Zurutuza Ibarguren, Ane; Sáez Villaverde, Raquel; Tamayo Dur... Journal: Ophthalmic genetics Issue: Volume 43:Number 6(2022) Page Start: 809 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗