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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...

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Detalles Bibliográficos
Autores principales:	Nakamura, Natsuko, Tsunoda, Kazushige, Mitsutake, Akihiko, Shibata, Shota, Mano, Tatsuo, Nagashima, Yu, Ishiura, Hiroyuki, Iwata, Atsushi, Toda, Tatsushi, Tsuji, Shoji, Sawamura, Hiromasa
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	The Association for Research in Vision and Ophthalmology 2020
Materias:	Retina
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

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