Article
Individuals with heterozygous variants in the Wnt-signalling pathway gene FZD5 delineate a phenotype characterized by isolated coloboma and variable expressivity.
Ophthalmic genetics - 1 Dec 2022
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 Durán Alejandra, Ayuso Carmen, Bax Dorine A, Plaisancie Julie, Corton Marta, Chassaing Nicolas, Calvas Patrick, Ragge Nicola K
Abstract excerpt
BACKGROUND: Anophthalmia, microphthalmia and coloboma are a genetically heterogenous spectrum of developmental eye disorders. Recently, variants in the Wnt-pathway gene Frizzled Class Receptor 5 (FZD5) have been identified in individuals with coloboma and rarely microphthalmia, sometimes with additional phenotypes and variable penetrance. MATERIALS AND METHODS: We identified variants in FZD5 in individuals with...
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