Article
A novel CCM2 variant in a family with non-progressive cognitive complaints and cerebral microbleeds.
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics - 1 Apr 2017
Cohn-Hokke Petra E, Holstege Henne, Weiss Marjan M, van der Flier Wiesje M, Barkhof Frederik, Sistermans Erik A, Pijnenburg Yolande A L, van Swieten John C, Meijers-Heijboer Hanne, Scheltens Philip
Abstract excerpt
Lobar cerebral microbleeds are most often sporadic and associated with Alzheimer's disease. The aim of our study was to identify the underlying genetic defect in a family with cognitive complaints and multiple lobar microbleeds and a positive family history for early onset Alzheimer's disease. We performed exome sequencing followed by Sanger sequencing for validation purposes on genomic DNA of three siblings with...
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