Inherited retinal disorders in Scotland: A 5 year assessment
This study presents a description of inherited retinal disorders in Scotland over a 5-year period. The most common…
Variants in NR6A1 cause a novel oculo vertebral renal syndrome
Variants in NR6A1 cause an oculo-vertebral-renal (OVR) syndrome We identified three rare NR6A1 variants in three families affected…