Pathogenic NR2F1 variants cause a developmental ocular phenotype recapitulated in a mutant mouse model.
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Brain Commun. 2021 Jul 20;3(3):fcab162. doi: 10.1093/braincomms/fcab162. eCollection 2021.
Brain Commun. 2021.
PMID: 34466801
Free PMC article.
High-resolution optical coherence tomography imaging confirmed significant loss of retinal ganglion cells with thinning of the ganglion cell layer, consistent with electrophysiological evidence of retinal ganglion cells dysfunction. ...To further investigate how pat …
High-resolution optical coherence tomography imaging confirmed significant loss of retinal ganglion cells with thinning of the gangli …