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Late onset dominant cone dystrophy

December 31, 2014

Latest Research

  • A clinical and electrophysiological case study of a child with a novel frame shift mutation in the CACNA1F and missense variation of RIMS1 genes
  • A CTRP5 gene S163R mutation knock-in mouse model for late-onset retinal degeneration
  • A range of clinical phenotypes associated with mutations in CRX, a photoreceptor transcription-factor gene
  • An unusual retinal phenotype associated with a novel mutation in RHO
  • Autosomal Recessive Rod-Cone Dystrophy Associated With Compound Heterozygous Variants in <em>ARL3</em> Gene
More Research
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About CheckOrphan

CheckOrphan is a non-profit organization located in Basel, Switzerland and Santa Cruz, California that is dedicated to rare, orphan and neglected diseases. CheckOrphan offers users an interactive and dynamic platform for all these diseases. This strategy allows visitors to be updated daily on all the latest news and interact with people internationally. This is essential, because due to the nature of these diseases, there is not a large concentration of individuals within any given proximity.
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