title: Reduced expression by SETBP1 haploinsufficiency causes developmental and expressive language delay indicating a phenotype distinct from Schinzel-Giedion syndrome.
authors.affiliation: Division of Medical Genetics, University Children's Hospital and Department of Biomedicine, Basel, Switzerland.
authors.forename: Isabel
authors.initials: I
authors.lastname: Filges
authors.forename: Keiko
authors.initials: K
authors.lastname: Shimojima
authors.forename: Nobuhiko
authors.initials: N
authors.lastname: Okamoto
authors.forename: Benno
authors.initials: B
authors.lastname: Röthlisberger
authors.forename: Peter
authors.initials: P
authors.lastname: Weber
authors.forename: Andreas R
authors.initials: AR
authors.lastname: Huber
authors.forename: Tsutomu
authors.initials: T
authors.lastname: Nishizawa
authors.forename: Alexandre N
authors.initials: AN
authors.lastname: Datta
authors.forename: Peter
authors.initials: P
authors.lastname: Miny
authors.forename: Toshiyuki
authors.initials: T
authors.lastname: Yamamoto
mesh_terms: D000015:Abnormalities, Multiple / Q000473:pathology; D015153:Blotting, Western; D002352:Carrier Proteins / Q000235:genetics*; D015331:Cohort Studies; D055028:Comparative Genomic Hybridization; D019465:Craniofacial Abnormalities / Q000473:pathology; D005347:Fibroblasts / Q000378:metabolism; D006228:Hand Deformities, Congenital / Q000473:pathology; D057895:Haploinsufficiency / Q000235:genetics*; D006801:Humans; D008607:Intellectual Disability / Q000473:pathology; D007564:Japan; D007805:Language Development Disorders / Q000235:genetics* / Q000473:pathology; D009264:Nails, Malformed / Q000473:pathology; D009687:Nuclear Proteins / Q000235:genetics*; D010641:Phenotype; D020133:Reverse Transcriptase Polymerase Chain Reaction
chemical_list: D002352:Carrier Proteins; D009687:Nuclear Proteins; C425066:SETBP1 protein, human