Individuals with heterozygous variants in the Wnt-signalling pathway gene FZD5 delineate a phenotype characterized by isolated coloboma and variable expressivity
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DOI: 10.1080/13816810.2022.2144905
Abstract: ABSTRACT 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… read more here.
Keywords: individuals heterozygous; variants wnt; pathway gene; fzd5 variants ... See more keywords