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)
Juanita Pappalardo, Rachael C. Heath Jeffery, Jennifer A. Thompson, Enid Chelva, Quang Pham, Ian J. Constable, Terri L. McLaren, Tina M. Lamey, John N. De Roach, Fred K. Chen
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