title: Severe intellectual disability in a patient with Burn-McKeown syndrome.
authors.affiliation: aManchester Centre for Genomic Medicine, St Mary's Hospital, Central Manchester University Hospitals, NHS Foundation Trust Manchester Academic Health Sciences Centre bDivision of Evolution and Genomic Sciences, School of Biological Sciences, University of Manchester, Manchester, UK cThe Folkhaelsan Department of Medical Genetics dChildren's Hospital, Helsinki University Hospital and University of Helsinki, Helsinki, Finland.
authors.forename: Sonja
authors.initials: S
authors.lastname: Strang-Karlsson
authors.forename: Jill
authors.initials: J
authors.lastname: Urquhart
authors.forename: William G
authors.initials: WG
authors.lastname: Newman
authors.forename: Sofia
authors.initials: S
authors.lastname: Douzgou
mesh_terms: D000483:Alleles; D002648:Child; D002754:Choanal Atresia / Q000175:diagnosis* / Q000235:genetics; D003638:Deafness / Q000151:congenital* / Q000175:diagnosis / Q000235:genetics; D019066:Facies; D005260:Female; D006330:Heart Defects, Congenital / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis* / Q000235:genetics; D009154:Mutation; D010641:Phenotype; D017415:Ribonucleoprotein, U5 Small Nuclear / Q000235:genetics; D012720:Severity of Illness Index; D000073359:Exome Sequencing
chemical_list: D017415:Ribonucleoprotein, U5 Small Nuclear; C506012:TXNL4A protein, human