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Article

Next generation sequencing based identification of disease-associated mutations in Swiss patients with retinal dystrophies.

Scientific reports - 29 Jun 2016

Tiwari Amit, Bahr Angela, Bähr Luzy, Fleischhauer Johannes, Zinkernagel Martin S, Winkler Niklas, Barthelmes Daniel, Berger Lieselotte, Gerth-Kahlert Christina, Neidhardt John, Berger Wolfgang

Abstract excerpt

Inherited monogenic diseases of the retina and vitreous affect approximately 1 in 2000 individuals. They are characterized by tremendous genetic heterogeneity and clinical variability involving mutations in approximately 250 genes and more than 20 different clinical phenotypes. Clinical manifestations of retinal dystrophies (RDs) range from mild retinal dysfunctions to severe congenital forms of blindness. A...

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PMID: 27353947
DOI: 10.1038/srep28755
PMCID: PMC4926080

Genes

FLVCR1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

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