Individuals with heterozygous variants in the Wnt-signalling pathway gene FZD5 delineate a phenotype characterized by isolated coloboma and variable expressivity.
Ophthalmic genetics(2022)
Abstract
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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Key words
FZD5,Wnt signalling pathway,coloboma,genetic testing,microphthalmia,patient care,penetrance
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