Associated Papers
Identification of a novel CABP4 frameshift variant and a secondary USH2A missense variant in congenital cone-rod synaptic disorder.
Mousawi Z et al.
Ophthalmic Genetics, 2026
Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes.
Hitti-Malin RJ et al.
Biomolecules, 2024
38540785 (PubMed )
Supplement: biomolecules-14-00367-s001.zip › Supplementary_Table_S2-Possibly_and_very_likely_solved_probands.xlsx › Sheet1
The genetic landscape of inherited retinal dystrophies in Arabs.
Jaffal L et al.
Bmc Medical Genomics, 2023
37127645 (PubMed )
Supplement: 12920_2023_1518_MOESM2_ESM.xlsx › Sheet1
Congenital stationary night blindness: an update and review of the disease spectrum in Saudi Arabia.
Almutairi F et al.
Acta Ophthalmologica, 2021
CABP4 mutations do not cause congenital stationary night blindness.
Khan AO
Ophthalmology, 2014
Multimodal imaging in CABP4-related retinopathy.
Schatz P et al.
Ophthalmic Genetics, 0
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