Genetic & Genomic MedicinemedRxivPreprint
Loss of GFAP causes retinal dysplasia and vision impairment
Menachem Viktor Sarusie, Cecilia Rönnbäck, Cathrine Jespersgaard…·Karen Grønskov
The paper identifies a loss-of-function GFAP variant causing retinal dysplasia and vision impairment in a family, revealing a novel role for GFAP in eye development.