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Article

Expanding the Clinical and Genetic Spectrum of RAB28-Related Cone-Rod Dystrophy: Pathogenicity of Novel Variants in Italian Families.

International journal of molecular sciences - 31 Dec 2020

Iarossi Giancarlo, Marino Valerio, Maltese Paolo Enrico, Colombo Leonardo, D'Esposito Fabiana, Manara Elena, Dhuli Kristjana, Modarelli Antonio Mattia, Cennamo Gilda, Magli Adriano, Dell'Orco Daniele, Bertelli Matteo

Abstract excerpt

The small Ras-related GTPase Rab-28 is highly expressed in photoreceptor cells, where it possibly participates in membrane trafficking. To date, six alterations in the RAB28 gene have been associated with autosomal recessive cone-rod dystrophies. Confirmed variants include splicing variants, missense and nonsense mutations. Here, we present a thorough phenotypical and genotypical characterization of five...

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PMID: 33396523
DOI: 10.3390/ijms22010381
PMCID: PMC7795990

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