Associated Papers
Homozygosity for a hypomorphic mutation in frizzled class receptor 5 causes syndromic ocular coloboma with microcornea in humans.
Cortés-González V et al.
Human Genetics, 2024
Confirmation of FZD5 implication in a cohort of 50 patients with ocular coloboma.
Aubert-Mucca M et al.
European Journal of Human Genetics : Ejhg, 2021
Confirming and expanding the phenotypes of FZD5 variants: Coloboma, inferior chorioretinal hypoplasia, and high myopia.
Jiang Y et al.
Molecular Vision, 2021
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