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Study of variants associated with Fuchs corneal endothelial dystrophy cases without expansion of CTG18.1 repeats

(Submitter supplied) Fuchs' endothelial corneal dystrophy (FECD) is an inherited bilateral eye disease associated with a reduction in the density and functionality of the corneal endothelium. FECD is a genetic disease with autosomal-dominant inheritance. Genetic variants in the TCF4 gene have the most direct association with sporadic late-onset FECD in Caucasian patients. Association of the intronic single-nucleotide polymorphism (SNP) rs613872 in TCF4 gene with FECD was discovered in the Genome-Wide Association Study (GWAS) performed by Baratz et al. more...
Organism:
Homo sapiens
Type:
Genome variation profiling by SNP array
Platform:
GPL32909
31 Samples
Download data: TAB
Series
Accession:
GSE219272
ID:
200219272

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