title: Kjellin syndrome: first case with retinal changes in carriers.
authors.affiliation: University of Leicester, Leicester Royal Infirmary, Leicester, LE2 7LX, UK.
authors.forename: Arun
authors.initials: A
authors.lastname: Sachdev
authors.forename: Frank A
authors.initials: FA
authors.lastname: Proudlock
authors.forename: Richard
authors.initials: R
authors.lastname: Abbott
authors.forename: Irene
authors.initials: I
authors.lastname: Gottlob
mesh_terms: D000328:Adult; D025063:Chromosome Disorders / Q000150:complications / Q000235:genetics; D003704:Dementia / Q000150:complications* / Q000235:genetics; D004401:Dysarthria / Q000150:complications* / Q000235:genetics; D005260:Female; D005808:Genes, Recessive / Q000235:genetics; D006580:Genetic Carrier Screening; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D008268:Macular Degeneration / Q000175:diagnosis* / Q000235:genetics; D010264:Paraplegia / Q000150:complications* / Q000235:genetics; D013577:Syndrome