Genes, Vol. 8, Pages 208: A Rare Form of Retinal Dystrophy Caused by Hypomorphic Nonsense Mutations in CEP290

Conclusions: Compound heterozygous hypomorphic mutations in CEP290 may lead to a rare form of cone-dominated retinal dystrophy, a novel phenotype belonging to the CEP290-associated spectrum of ciliopathies. These findings provide insight into the effect of CEP290 mutations on the clinical phenotype.

Source: Genes - August 22, 2017 Category: Genetics & Stem Cells Authors: Susanne Roosing Frans Cremers Frans Riemslag Marijke Zonneveld-Vrieling Herman Talsma Francoise Klessens-Godfroy Anneke den Hollander L. van den Born Tags: Article Source Type: research