Associated Papers
5' UTR variant in the NDP gene leads to incorrect splicing and familial exudative vitreoretinopathy.
Liu S et al.
Orphanet Journal of Rare Diseases, 2025
41174744 (PubMed )
Supplement: 13023_2025_3724_MOESM1_ESM.xlsx › Sheet1
Dual inheritance patterns: A spectrum of non-syndromic inherited retinal disease phenotypes with varying molecular mechanisms.
Holtes LK et al.
Progress in Retinal and Eye Research, 2025
Deep clinical phenotyping and gene expression analysis in a patient with RCBTB1-associated retinopathy.
Huang Z et al.
Ophthalmic Genetics, 2021
Haploinsufficiency of RCBTB1 is associated with Coats disease and familial exudative vitreoretinopathy.
Wu JH et al.
Human Molecular Genetics, 2016
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