Article
Familial idiopathic basal ganglia calcification (Fahr's disease) without neurological, cognitive and psychiatric symptoms is not linked to the IBGC1 locus on chromosome 14q.
Human genetics - 1 Jan 2002
Brodaty Henry, Mitchell Philip, Luscombe Georgina, Kwok John J, Badenhop Renee F, McKenzie Rod, Schofield Peter R
Abstract excerpt
Idiopathic basal ganglia calcification (IBGC) is characterised by radiological, neurological, cognitive and psychiatric abnormalities. The associations between these abnormal phenotypes and abnormal genes remain unclear despite the recent mapping to chromosome 14q of a susceptibility locus for IBGC ( IBGC1). We identified two siblings, from a large multigenerational pedigree, who had both been diagnosed with...
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