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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)

Home Research Research Publication 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)

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).

Pappalardo J, Heath Jeffery RC, Thompson JA, Chelva E, Pham Q, Constable IJ, McLaren TL, Lamey TM, De Roach JN, Chen FK.

Doc Ophthalmol. 2021 Aug;143(1):61-73. doi: 10.1007/s10633-021-09819-x. Epub 2021 Jan 29.

PMID: 33512609

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