Article
Expanding the phenotypic spectrum in RDH12-associated retinal disease.
Cold Spring Harbor molecular case studies - 1 Feb 2020
Scott Hilary A, Place Emily M, Ferenchak Kevin, Zampaglione Erin, Wagner Naomi E, Chao Katherine R, DiTroia Stephanie P, Navarro-Gomez Daniel, Mukai Shizuo, Huckfeldt Rachel M, Pierce Eric A, Bujakowska Kinga M
Abstract excerpt
Retinol dehydrogenase 12, RDH12, plays a pivotal role in the visual cycle to ensure the maintenance of normal vision. Alterations in activity of this protein result in photoreceptor death and decreased vision beginning at an early age and progressing to substantial vision loss later in life. Here we describe 11 patients with retinal degeneration that underwent next-generation sequencing (NGS) with a targeted...
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