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Article

Confirming and expanding the phenotypes of FZD5 variants: Coloboma, inferior chorioretinal hypoplasia, and high myopia.

Molecular vision - 1 Jan 2021

Jiang Yi, Ouyang Jiamin, Li Shiqiang, Xiao Xueshan, Sun Wenmin, Zhang Qingjiong

Abstract excerpt

Purpose: Two frameshift and two indel variants in FZD5 have been reported to cause coloboma in two families with incomplete penetrance and in two isolated cases in previous studies, respectively. This study aims to confirm this association and expand related specific phenotypes based on the genotype-phenotype analysis of FZD5 variants. Methods: Variants in FZD5 were collected from our in-house exome sequencing...

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PMID: 33633439
PMCID: PMC7883931

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