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
Spectrum of Mutations in NDP Resulting in Ocular Disease; a Systematic Review.
Wawrzynski J et al.
Frontiers in Genetics, 2022
Novel Norrie disease gene mutations in Chinese patients with familial exudative vitreoretinopathy.
Jia LY et al.
Bmc Ophthalmology, 2021
Whole-Exome Sequencing Analysis Identified Novel Mutations in the TSPAN12 Gene in Chinese Families with Familial Exudative Vitreoretinopathy.
Yuan Y et al.
Genetic Testing and Molecular Biomarkers, 2019
A novel c.2T>A NDP missense mutation in a Chinese family with Norrie disease.
Fangting L et al.
Acta Ophthalmologica, 2016
A novel Norrie disease pseudoglioma gene mutation, c.-1_2delAAT, responsible for Norrie disease in a Chinese family.
Zhang XY et al.
International Journal of Ophthalmology, 2013
NDP gene mutations in 14 French families with Norrie disease.
Royer G et al.
Human Mutation, 2003
Norrie-Warburg syndrome: two novel mutations in patients with classical clinical phenotype.
Gal A et al.
Acta Ophthalmologica Scandinavica. Supplement, 1996
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