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Paper Details

Clinical and molecular consequences of disease-associated de novo mutations in SATB2.
Genet Med
38
2017
Arg389Cys, CUT domain, CUT1, CUT2, Fibroblasts, HOX, SATB2, SATB2 haploinsufficiency, SATB2 mutations, absent/near absent speech, chromatin, cleft palate, dental anomalies, drooling, exon, intellectual disability, mutant SATB2, mutant SATB2 protein, neurodevelopmental impairment, syndromic intellectual disability
Author NameAffiliation
Sally Ann LynchNational Centre for Medical Genetics, Our Lady's Children's Hospital
Ann NordgrenClinical Genetics Unit, Karolinska Institutet
Sarju G MehtaCambridge University Hospitals NHS Foundation
Fiona StewartBelfast City Hospital
Jill Clayton-Smith
Shehla MohammedGuy's and St Thomas' NHS Foundation Trust
Detelina GrozevaCambridge Institute for Medical Research, University of Cambridge
Matthew E HurlesWellcome Trust Sanger Institute
Matthew E HurlesWellcome Trust Sanger Institute
Helen V FirthCambridge University Hospitals NHS Foundation
Frances Lucy RaymondCambridge Institute for Medical Research, University of Cambridge
Christoffer Nell??kerUniversity of Oxford, John Radcliffe Hospital
Christoffer Nell??kerUniversity of Oxford, Institute of Biomedical Engineering
Christoffer Nell??kerBig Data Institute, University of Oxford
David R FitzPatrickUniversity of Edinburgh, Western General Hospital
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