Associated Papers
Novel Norrie disease gene mutations in Chinese patients with familial exudative vitreoretinopathy.
Jia LY et al.
Bmc Ophthalmology, 2021
Norrie disease: extraocular clinical manifestations in 56 patients.
Smith SE et al.
American Journal of Medical Genetics. Part A, 2012
PhenoHM: human-mouse comparative phenome-genome server.
Sardana D et al.
Nucleic Acids Research, 2010
20507906 (PubMed )
Supplement: gkq472_nar-00429-web-b-2010-File006.xls › MPO_to_OMIM_allelic_Variants
SNPs: impact on gene function and phenotype.
Shastry BS
Methods in Molecular Biology (clifton, N.j.), 2009
Two new mutations in exon 3 of the NDP gene: S73X and S101F associated with severe and less severe ocular phenotype, respectively.
Walker JL et al.
Human Mutation, 1997
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