Article
Mutations in known disease genes account for the majority of autosomal recessive retinal dystrophies.
Clinical genetics - 1 Dec 2018
Patel N, Alkuraya H, Alzahrani S S, Nowailaty S R, Seidahmed M Z, Alhemidan A, Ben-Omran T, Ghazi N G, Al-Aqeel A, Al-Owain M, Alzaidan H I, Faqeih E, Kurdi W, Rahbeeni Z, Ibrahim N, Abdulwahab F, Hashem M, Shaheen R, Abouelhoda M, Monies D, Khan A O, Aldahmesh M A, Alkuraya Fowzan S
Abstract excerpt
Retinal dystrophies (RDs) are hereditary blinding eye conditions that are highly variable in their clinical presentation. The remarkable genetic heterogeneity that characterizes RD was a major challenge in establishing the molecular diagnosis in these patients until the recent advent of next-generation sequencing. It remains unclear, however, what percentage of autosomal recessive RD remain undiagnosed when all...
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