A novel nonsense variant in REEP6 is involved in a sporadic rod-cone dystrophy case.

Abstract

Rod-cone dystrophy (RCD), also called retinitis pigmentosa, is the most common form of progressive inherited retinal disorders secondary to photoreceptor degeneration. It is a genetically heterogeneous disease characterized by night blindness, followed by visual field constriction and, in most severe cases, total blindness. The aim of our study was to… (More)
DOI: 10.1111/cge.13171

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Cite this paper

@article{Mjcase2017ANN, title={A novel nonsense variant in REEP6 is involved in a sporadic rod-cone dystrophy case.}, author={C M{\'e}j{\'e}case and Saddek Mohand-Sa{\"i}d and Said El Shamieh and A. Antonio and Christel Condroyer and S. Blanchard and M{\'e}lanie Letexier and J. Miguel Saraiva and J Sahel and Isabelle Audo and Christina Zeitz}, journal={Clinical genetics}, year={2017} }