CDHR1 mutations in retinal dystrophies

CDHR1 mutations in retinal dystrophies

Abstract We report ophthalmic and genetic findings in patients with autosomal recessive retinitis pigmentosa (RP), cone-rod dystrophy (CRD) or cone dystrophy (CD) harboring potential pathogenic variants in the CDHR1 gene. Detailed ophthalmic examination was performed in seven sporadic and six famili...

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Bibliographic Details
Main Authors:	Katarina Stingl, Anja K. Mayer, Pablo Llavona, Lejla Mulahasanovic, Günther Rudolph, Samuel G. Jacobson, Eberhart Zrenner, Susanne Kohl, Bernd Wissinger, Nicole Weisschuh
Format:	Article
Language:	English
Published:	Nature Portfolio 2017-08-01
Series:	Scientific Reports
Online Access:	https://doi.org/10.1038/s41598-017-07117-8

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