Broadening 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.
Search
- Jul 15, 2018
Understanding the molecular mechanisms underlying retina degeneration in INPP5E-Joubert Syndrome
Our goal is to identify the onset of degeneration and devise gene-based therapies to ameliorate or cure the retina disease.
- Apr 28, 2015
Mutation 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.