Associated Papers
Functional analysis of a novel segment deletion in the FRMD7 gene causing X-linked idiopathic congenital nystagmus.
Zhao X et al.
Genomics, 2025
Genetic Basis of Non-Syndromic Childhood Glaucoma Associated with Anterior Segment Dysgenesis: A Narrative Review.
Cronbach N et al.
Pharmaceuticals (basel, Switzerland), 2025
Congenital Aphakia Associated With a GJA8 Pathogenic Variant: A Case Report.
Lucas SAM et al.
Clinical Case Reports, 2025
Association of variants in GJA8 with familial acorea-microphthalmia-cataract syndrome.
Dong S et al.
European Journal of Human Genetics : Ejhg, 2024
Microphthalmia and anterior segment dysgenesis due to a double gene variant in GJA8 and CRYGC.
Zhou L et al.
European Journal of Ophthalmology, 2024
A novel mutation GJA8 NM_005267.5: c.124G > A, p.(E42K) causing congenital nuclear cataract.
Guo R et al.
Bmc Ophthalmology, 2022
Molecular diagnosis of autosomal dominant congenital cataract in two families from North India reveals a novel and a known variant in GJA8 and GJA3.
Vanita V et al.
Frontiers in Pediatrics, 2022
Differential Domain Distribution of gnomAD- and Disease-Linked Connexin Missense Variants.
Bai D et al.
International Journal of Molecular Sciences, 2021
34360596 (PubMed )
Supplement: ijms-22-07832-s001.zip › ijms-1281081_supplemental-tables-June10-2021.pdf
A novel missense mutation of GJA8 causes congenital cataract in a large Mauritanian family.
Hadrami M et al.
European Journal of Ophthalmology, 2019
New GJA8 variants and phenotypes highlight its critical role in a broad spectrum of eye anomalies.
Ceroni F et al.
Human Genetics, 2019
Phenotype-genotype correlations and emerging pathways in ocular anterior segment dysgenesis.
Ma AS 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
Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next-Generation Sequencing.
Ma AS et al.
Human Mutation, 2016
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