A novel phenotype in a family with autosomal dominant retinal dystrophy due to c.1430A > G in retinoid isomerohydrolase (RPE65) and c.37C > T in bestrophin 1 (BEST1)
Title:
A novel phenotype in a family with autosomal dominant retinal dystrophy due to c.1430A > G in retinoid isomerohydrolase (RPE65) and c.37C > T in bestrophin 1 (BEST1)
Author:
Pappalardo, Juanita Heath Jeffery, Rachael C. Thompson, Jennifer A. Chelva, Enid Pham, Quang Constable, Ian J. McLaren, Terri L. Lamey, Tina M. De Roach, John N. Chen, Fred K.