Associated Papers
Longitudinal study in autosomal recessive PROM1 inherited retinal disease.
Yates WB et al.
Ophthalmic Genetics, 2025
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
Compound heterozygous novel frameshift variants in the PROM1 gene result in Leber congenital amaurosis.
Ragi SD et al.
Cold Spring Harbor Molecular Case Studies, 2019
A case-control collapsing analysis identifies retinal dystrophy genes associated with ophthalmic disease in patients with no pathogenic ABCA4 variants.
Wolock CJ et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
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
Characteristic Ocular Features in Cases of Autosomal Recessive PROM1 Cone-Rod Dystrophy.
Collison FT et al.
Investigative Ophthalmology & Visual Science, 2019
Identification of novel PROM1 mutations responsible for autosomal recessive maculopathy with rod-cone dystrophy.
Liang J et al.
Graefe's Archive for Clinical and Experimental Ophthalmology = Albrecht Von Graefes Archiv Fur Klinische Und Experimentelle Ophthalmologie, 2019
Panel-based genetic diagnostic testing for inherited eye diseases is highly accurate and reproducible, and more sensitive for variant detection, than exome sequencing.
Consugar MB et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2015
25412400 (PubMed )
Supplement: NIHMS639026-supplement-Supplementary_Material_-_Table_S7_Excel.xls › GEDi_Diagnoses
An intronic deletion in the PROM1 gene leads to autosomal recessive cone-rod dystrophy.
Eidinger O et al.
Molecular Vision, 2015
PROM1 gene variations in Brazilian patients with macular dystrophy.
Salles MV et al.
Ophthalmic Genetics, 0
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