bioRxiv / medRxiv
open access
CC BY-ND 4.0
Genotype-Phenotype Correlations Reveal Positive Inheritance and Phenotype Associations for PROM1-Associated Inherited Retinal Degenerations
ObjectiveWe analyzed 190 PROM1 variants to determine whether we could identify genotype-phenotype correlations with predictive value for patient outcomes. We present a case-series of 7 patients with rare, under-reported, or unique forms of PROM1-associated retinal dystrophies. DesignWe performed a
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