Loading...

Two novel CAPN5 variants associated with mild and severe Autosomal Dominant Neovascular Inflammatory Vitreoretinopathy (ADNIV) phenotypes

PURPOSE: We report two new CAPN5 mutations associated with a phenotype of Autosomal Dominant Neovascular Inflammatory Vitreoretinopathy. METHODS: We performed next generation sequencing in two patients with ADNIV phenotype; the variants identified were explored further. RESULTS: Patient 1 was hetero...

Full description

Saved in:
Bibliographic Details
Published in:Ocul Immunol Inflamm
Main Authors: Randazzo, Nadia M., Shanks, Morag E., Clouston, Penny, MacLaren, Robert E.
Format: Artigo
Language:Inglês
Published: 2017
Subjects:
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC6711405/
https://ncbi.nlm.nih.gov/pubmed/29040051
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1080/09273948.2017.1370651
Tags: Add Tag
No Tags, Be the first to tag this record!