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Paper Details

Phenotypic spectrum associated with a CRADD founder variant underlying frontotemporal predominant pachygyria in the Finnish population.
Eur J Hum Genet
11
2019
Arg170His, CRADD, CRADD founder variant, CRADD variant, EEG abnormalities, ID, Intellectual disability, ancestors, c, c.509G, cortical thickening, frontotemporal pachygyria, frontotemporal predominant, lissencephaly, megalencephaly, pachygyria, patients, recessive variants, seizures, thin lissencephaly
Author NameAffiliation
Mitja I KurkiMassachusetts General Hospital
Mitja I KurkiInstitute for Molecular Medicine Finland (FIMM), University of Helsinki
Mitja I KurkiThe Stanley Center for Psychiatric Research, The Broad Institute of MIT and Harvard
Jarmo KörkköNorthern Ostrobothnia Hospital District, Center for Intellectual Disability Care
Outi KuisminPEDEGO Research Unit and Medical Research Center Oulu, Oulu University Hospital and University of Oulu
Outi KuisminInstitute for Molecular Medicine Finland (FIMM), University of Helsinki
Irma J??rvel??University of Helsinki
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