Associated Papers
Whole exome sequencing revealed novel pathogenic variants in Vietnamese patients with FEVR.
Trang DT et al.
Molecular Vision, 2022
PHENOTYPIC HETEROGENEITY IN A FAMILY WITH X-LINKED FAMILIAL EXUDATIVE VITREORETINOPATHY WITH PREVENTION OF VISUAL LOSS IN AN AFFECTED MALE CHILD WITH LASER TREATMENT IN INFANCY.
Flores Pimentel MA et al.
Retinal Cases & Brief Reports, 2021
A novel missense mutation of NDP in a Chinese family with X-linked familial exudative vitreoretinopathy.
Liu HY et al.
Journal of the Chinese Medical Association : Jcma, 2016
Next-generation sequencing and novel variant determination in a cohort of 92 familial exudative vitreoretinopathy patients.
Salvo J et al.
Investigative Ophthalmology & Visual Science, 2015
A mutation in the Norrie disease gene (NDP) associated with familial exudative vitreoretinopathy.
Chamney S et al.
Eye (london, England), 2011
The molecular basis of human retinal and vitreoretinal diseases.
Berger W et al.
Progress in Retinal and Eye Research, 2010
Novel and recurrent NDP gene mutations in familial cases of Norrie disease and X-linked exudative vitreoretinopathy.
Pelcastre EL et al.
Clinical & Experimental Ophthalmology, 2010
SNPs: impact on gene function and phenotype.
Shastry BS
Methods in Molecular Biology (clifton, N.j.), 2009
NDP gene mutations in 14 French families with Norrie disease.
Royer G et al.
Human Mutation, 2003
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