Jun 28, 2021INPP5EBroadening INPP5E phenotypic spectrum:Here, we report 16 non-syndromic IRD patients and two cases with an IRD and some JBTS clinical features with pathogenic variants in INPP5E.
Jul 14, 2018INPP5EUnderstanding the molecular mechanisms underlying retina degeneration in INPP5E-Joubert SyndromeOur goal is to identify the onset of degeneration and devise gene-based therapies to ameliorate or cure the retina disease.
Apr 28, 2015INPP5EMutation analysis in 129 genes associated with other forms of retinal dystrophy Findings suggest that a small portion of RP may be caused by mutations in genes responsible for other forms of retinal dystrophy.