Associated Papers
The pathogenicity of a novel frame-shift variant c.2321delC of PROM1 in an autosomal recessive cone-rod dystrophy pedigree may be associated with augment of autophagy.
Wu C et al.
Experimental Eye Research, 2025
Clinical and Molecular Characterization of PROM1-Related Retinal Degeneration.
Cehajic-Kapetanovic J et al.
Jama Network Open, 2019
31199449 (PubMed )
Supplement: jamanetwopen-2-e195752-s001.pdf
Next-generation sequencing-based molecular diagnosis of 82 retinitis pigmentosa probands from Northern Ireland.
Zhao L et al.
Human Genetics, 2015
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