title: Novel truncating mutations in the polyglutamine tract binding protein 1 gene (PQBP1) cause Renpenning syndrome and X-linked mental retardation in another family with microcephaly.
authors.forename: Claus
authors.initials: C
authors.lastname: Lenski
authors.forename: Fatima
authors.initials: F
authors.lastname: Abidi
authors.forename: Alfons
authors.initials: A
authors.lastname: Meindl
authors.forename: Alice
authors.initials: A
authors.lastname: Gibson
authors.forename: Matthias
authors.initials: M
authors.lastname: Platzer
authors.forename: R
authors.initials: R
authors.lastname: Frank Kooy
authors.forename: Herbert A
authors.initials: HA
authors.lastname: Lubs
authors.forename: Roger E
authors.initials: RE
authors.lastname: Stevenson
authors.forename: Juliane
authors.initials: J
authors.lastname: Ramser
authors.forename: Charles E
authors.initials: CE
authors.lastname: Schwartz
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics; D000595:Amino Acid Sequence; D001483:Base Sequence; D002352:Carrier Proteins; D004268:DNA-Binding Proteins; D005260:Female; D040181:Genetic Diseases, X-Linked / Q000235:genetics*; D006801:Humans; D008607:Intellectual Disability / Q000150:complications / Q000235:genetics*; D008297:Male; D008831:Microcephaly / Q000150:complications / Q000235:genetics*; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics*; D009687:Nuclear Proteins / Q000737:chemistry / Q000235:genetics*; D010375:Pedigree; D013577:Syndrome
chemical_list: D002352:Carrier Proteins; D004268:DNA-Binding Proteins; D009687:Nuclear Proteins; C119246:PQBP1 protein, human