Associated Papers
Individuals with heterozygous variants in the Wnt-signalling pathway gene FZD5 delineate a phenotype characterized by isolated coloboma and variable expressivity.
Holt R et al.
Ophthalmic Genetics, 2022
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
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