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Clinical Characteristics of Neuronal Intranuclear Inclusion Disease-Related Retinopathy With CGG Repeat Expansions in the NOTCH2NLC Gene
PURPOSE: To report the ocular characteristics of neuronal intranuclear inclusion disease (NIID)–related retinopathy with expansion of the CGG repeats in the NOTCH2NLC gene. METHODS: Seven patients from six families (aged 66–81 years) diagnosed with adult-onset NIID were studied. Ophthalmologic exami...
Autores principales: | , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
The Association for Research in Vision and Ophthalmology
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7500143/ https://www.ncbi.nlm.nih.gov/pubmed/32931575 http://dx.doi.org/10.1167/iovs.61.11.27 |