Gillespie syndrome, partial aniridia, cerebellar ataxia and mental retardation in mother and daughter.
Two new cases of Gillespie syndrome in a mother and daughter are presented. This syndrome is characterised by partial aniridia, cerebellar ataxia and mental retardation.
Department of Ophthalmology, University Hospital Antwerp.
S
S
Verhulst
H
H
Smet
B
B
Ceulemans
Y
Y
Geerts
M J
MJ
Tassignon
D000328:Adult; D015783:Aniridia / Q000235:genetics*; D001259:Ataxia / Q000235:genetics*; D002675:Child, Preschool; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D013577:Syndrome; D014960:X Chromosome