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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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Detalhes bibliográficos
Publicado no:Am J Ophthalmol Case Rep
Main Authors: Zhou, Yujia, Shapiro, Michael J., Burton, Barbara K., Mets, Marilyn B., Kurup, Sudhi P.
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2021
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC8220341/
https://ncbi.nlm.nih.gov/pubmed/34189345
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajoc.2021.101151
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