Individuals with heterozygous variants in the Wnt-signalling pathway gene FZD5 delineate a phenotype characterized by isolated coloboma and variable expressivity.

Richard Holt,David Goudie, Alejandra Damián Verde,Alice Gardham,Francis Ramond,Audrey Putoux,Ajoy Sarkar,Virginia Clowes,Jill Clayton-Smith,Siddharth Banka, Laura Cortazar Galarza,Gilles Thuret, Marta Ubeda Erviti, Ane Zurutuza Ibarguren,Raquel Sáez Villaverde, Alejandra Tamayo Durán,Carmen Ayuso,Dorine A Bax,Julie Plaisancie,Marta Corton,Nicolas Chassaing,Patrick Calvas,Nicola K Ragge

Ophthalmic genetics（2022）

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摘要

Our findings indicate variants are typically associated with isolated ocular coloboma, occasionally microphthalmia, and that extraocular phenotypes are likely to be explained by other gene alterations.

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关键词

FZD5,Wnt signalling pathway,coloboma,genetic testing,microphthalmia,patient care,penetrance

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