Clinical characteristics of recessive retinal degeneration due to mutations in the CDHR1 gene and a review of the literature
Author:
Affiliation:
1. Cole Eye Institute, Cleveland Clinic, Cleveland, Ohio, USA
Publisher
Informa UK Limited
Subject
Genetics(clinical),Ophthalmology,Pediatrics, Perinatology, and Child Health
Link
https://www.tandfonline.com/doi/pdf/10.1080/13816810.2017.1363244
Reference13 articles.
1. Panel-based next generation sequencing as a reliable and efficient technique to detect mutations in unselected patients with retinal dystrophies
2. Identification of two novel mutations in CDHR1 in consanguineous Spanish families with autosomal recessive retinal dystrophy
3. Identification of a Novel Mutation in the CDHR1 Gene in a Family With Recessive Retinal Degeneration
4. A Photoreceptor-Specific Cadherin Is Essential for the Structural Integrity of the Outer Segment and for Photoreceptor Survival
5. Mutations in PCDH21 cause autosomal recessive cone-rod dystrophy
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