CRB1 mutation spectrum in inherited retinal dystrophies.
Mutations in the Crumbs homologue 1 (CRB1) gene have been reported in patients with a variety of autosomal recessive retinal dystrophies, including retinitis pigmentosa (RP) with preserved paraarteriolar retinal pigment epithelium (PPRPE), RP with Coats-like exudative vasculopathy, early onset RP without PPRPE, and Leber congenital amaurosis (LCA). We extended our investigations of CRB1 in these retinal dystrophies, and identified nine novel CRB1 sequence variants. In addition, we screened pa...Expand abstract
- Publication status:
- Publisher copy:
- Copyright date:
If you are the owner of this record, you can report an update to it here: Report update to this record