A CASE OF ALSTRÖM SYNDROME WITH A NOVEL VARIANT IN ALMS1 GENE PRESENTING WITH CONE ROD DYSTROPHY AS FIRST FINDING
Retin Cases Brief Rep. 2024 Apr 1. doi: 10.1097/ICB.0000000000001578. Online ahead of print. ABSTRACT PURPOSE: Alström Syndrome (AS) is a rare autosomal recessive monogenic ciliopathy …