A novel missense variant in IDH3A causes autosomal recessive retinitis pigmentosa.
Virginie G PeterKonstantinos NikopoulosMathieu QuinodozLotta GransePietro FarinelliAndrea Superti-FurgaSten AndréassonCarlo RivoltaPublished in: Ophthalmic genetics (2019)
This study highlights the importance of including this rarely-mutated gene in the molecular diagnostic set-ups for IRDs, and further delineates the phenotypic spectrum elicited by mutations in IDH3A.