Associated Papers
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
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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