Kjellin syndrome: first case with retinal changes in carriers.
Sachdev
Arun
A
University of Leicester, Leicester Royal Infirmary, Leicester, LE2 7LX, UK.
Proudlock
Frank A
FA
Abbott
Richard
R
Gottlob
Irene
I
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