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
Long-term hybridization in a karst window reveals the genetic basis of eye loss in cavefish.
Kellermeyer R et al.
Biorxiv : the Preprint Server for Biology, 2024
Characterization of a Novel Gja8 (Cx50) Mutation in a New Cataract Rat Model.
Shen J et al.
Investigative Ophthalmology & Visual Science, 2023
Identification of a New Mutation p.P88L in Connexin 50 Associated with Dominant Congenital Cataract.
Jin A et al.
Frontiers in Cell and Developmental Biology, 2022
Clinical utility of genetic testing in 201 preschool children with inherited eye disorders.
Lenassi E et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
31848469 (PubMed )
Supplement: 41436_2019_722_MOESM1_ESM.pdf
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