Associated Papers
Phenotype Analysis of Retinal Dystrophies in Light of the Underlying Genetic Defects: Application to Cone and Cone-Rod Dystrophies.
Boulanger-Scemama E et al.
International Journal of Molecular Sciences, 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
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
Next-generation sequencing applied to a large French cone and cone-rod dystrophy cohort: mutation spectrum and new genotype-phenotype correlation.
Boulanger-Scemama E et al.
Orphanet Journal of Rare Diseases, 2015
An intronic deletion in the PROM1 gene leads to autosomal recessive cone-rod dystrophy.
Eidinger O et al.
Molecular Vision, 2015
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