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
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
A secreted WNT-ligand-binding domain of FZD5 generated by a frameshift mutation causes autosomal dominant coloboma.
Liu C et al.
Human Molecular Genetics, 2016
Animal and cellular models of microphthalmia.
Harding P et al.
Therapeutic Advances in Rare Disease, 0
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