Reduced expression by SETBP1 haploinsufficiency causes developmental and expressive language delay indicating a phenotype distinct from Schinzel-Giedion syndrome.
Filges
Isabel
I
Division of Medical Genetics, University Children's Hospital and Department of Biomedicine, Basel, Switzerland.
Shimojima
Keiko
K
Okamoto
Nobuhiko
N
Röthlisberger
Benno
B
Weber
Peter
P
Huber
Andreas R
AR
Nishizawa
Tsutomu
T
Datta
Alexandre N
AN
Miny
Peter
P
Yamamoto
Toshiyuki
T
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
D002352:Carrier Proteins; D009687:Nuclear Proteins; C425066:SETBP1 protein, human