title: Cerebellar ataxia, mental retardation and dysequilibrium syndrome 1 (CAMRQ1) caused by an unusual constellation of VLDLR mutation.
authors.forename: Lars
authors.initials: L
authors.lastname: Schlotawa
authors.forename: Alrun
authors.initials: A
authors.lastname: Hotz
authors.forename: Christine
authors.initials: C
authors.lastname: Zeschnigk
authors.forename: Britta
authors.initials: B
authors.lastname: Hartmann
authors.forename: Jutta
authors.initials: J
authors.lastname: Gärtner
authors.forename: Deborah
authors.initials: D
authors.lastname: Morris-Rosendahl
mesh_terms: D017668:Age of Onset; D001483:Base Sequence; D001921:Brain / Q000473:pathology; D002524:Cerebellar Ataxia / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008279:Magnetic Resonance Imaging; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D010375:Pedigree; D011973:Receptors, LDL / Q000235:genetics*; D020133:Reverse Transcriptase Polymerase Chain Reaction
chemical_list: D011973:Receptors, LDL; C036053:VLDL receptor