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
Multimodal imaging of RCBTB1-associated retinal dystrophy.
Yang-Seeger D et al.
Ophthalmic Genetics, 2025
Phenotyping and genotyping FEVR: Molecular genetics, clinical and imaging features, and therapeutics.
Wang Y et al.
Progress in Retinal and Eye Research, 2025
Start and End with Genetics: RCBTB1 and Beyond.
Yang J et al.
Current Eye Research, 2021
Phenotype Variability in the Patients of Familial Exudative Vitreoretinopathy: the RCBTB1 case.
Chung MY et al.
Current Eye Research, 2021
Variants in RCBTB1 are Associated with Autosomal Recessive Retinitis Pigmentosa but Not Autosomal Dominant FEVR.
Yang J et al.
Current Eye Research, 2021
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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