Associated Papers
GJA8-associated developmental eye disorders: a new multicentre study highlights mutational hotspots and genotype-phenotype correlations.
Merepa SS et al.
European Journal of Human Genetics : Ejhg, 2025
Congenital Aphakia Associated With a GJA8 Pathogenic Variant: A Case Report.
Lucas SAM et al.
Clinical Case Reports, 2025
Identification and functional analysis of two GJA8 variants in Chinese families with eye anomalies.
Zhou L et al.
Molecular Genetics and Genomics : Mgg, 2022
Evaluation of the Genetic Variation Spectrum Related to Corneal Dystrophy in a Large Cohort.
Li W et al.
Frontiers in Cell and Developmental Biology, 2021
33816482 (PubMed )
Supplement: Data_Sheet_1.XLSX › Supplementary_Data_1
Revealing hidden genetic diagnoses in the ocular anterior segment disorders.
Ma A et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
New GJA8 variants and phenotypes highlight its critical role in a broad spectrum of eye anomalies.
Ceroni F et al.
Human Genetics, 2019
Genetics of anophthalmia and microphthalmia. Part 1: Non-syndromic anophthalmia/microphthalmia.
Plaisancié J et al.
Human Genetics, 2019
New mutations in GJA8 expand the phenotype to include total sclerocornea.
Ma AS et al.
Clinical Genetics, 2018
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