Prenatal diagnosis of familial exudative vitreoretinopathy and Norrie disease
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DOI: 10.1002/mgg3.503
Abstract: Both familial exudative vitreoretinopathy (FEVR) and Norrie disease (ND) are hereditary retinal disorders which can cause severe visual impairment and blindness at a young age. The present study aimed to report the use of antenatal… read more here.
Keywords: exudative vitreoretinopathy; norrie disease; diagnosis; familial exudative ... See more keywords
A novel frameshift c.22_25dupGCAT mutation of the NDP gene in a Chinese infant with Norrie disease
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DOI: 10.1097/md.0000000000028523
Abstract: Abstract Rationale: Norrie disease (ND) is a rare X-linked recessive disease characterized by bilateral congenital blindness and auditory impairments. According to the previous studies, Norrin cystine knot growth factor (NDP) gene have been found to… read more here.
Keywords: ndp gene; mutation ndp; norrie disease; mutation ... See more keywords
The timing of auditory sensory deficits in Norrie disease has implications for therapeutic intervention
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DOI: 10.1172/jci.insight.148586
Abstract: Norrie disease is caused by mutation of the NDP gene, presenting as congenital blindness followed by later onset of hearing loss. Protecting patients from hearing loss is critical for maintaining their quality of life. This… read more here.
Keywords: hearing loss; loss; pathology; norrie disease ... See more keywords