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Case report: A case of Norrie disease due to deletion of the entire coding region of NDP gene

PURPOSE: Norrie disease is a rare X-linked recessive vitreoretinopathy. Variants of the NDP gene are associated with this condition. This case reports aims to demonstrate the variations of clinical presentations and exam findings of this disease. OBSERVATIONS: A retrospective chart review of the pat...

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Detalles Bibliográficos
Autores principales:	Zhou, Yujia, Shapiro, Michael J., Burton, Barbara K., Mets, Marilyn B., Kurup, Sudhi P.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Elsevier 2021
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8220341/ https://www.ncbi.nlm.nih.gov/pubmed/34189345 http://dx.doi.org/10.1016/j.ajoc.2021.101151

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