title: [Mowat-Wilson syndrome: a report of three Danish cases].
abstract: Mowat-Wilson syndrome (MWS) is an autosomal dominant intellectual disability syndrome characterised by unique facial features and congenital anomalies such as Hirschsprung disease, congenital heart defects, corpus callosum agenesis and urinary tract anomalies. Some cases also present epilepsy, growth retardation and microcephaly. The syndrome is caused by mutations or deletions of the ZEB2 gene at chromosome 2q22-q23. MWS was first described in 1998 and until now approximately 180 cases have been reported worldwide. We report the first three molecularly confirmed Danish cases with MWS.
authors: Pædiatrisk Afdeling, Regionshospitalet Herning, 7400 Herning, Denmark. karinbgaard@gmail.com
authors: Karin Bækgaard
authors: KB
authors: Nissen
authors: Charlotte
authors: C
authors: Søndergaard
authors: Thomas
authors: T
authors: Thelle
authors: Rikke Steensbjerre
authors: RS
authors: Møller
mesh_terms: D002648:Child; D003718:Denmark; D019066:Facies; D005260:Female; D006627:Hirschsprung Disease / Q000175:diagnosis / Q000235:genetics; D018398:Homeodomain Proteins / Q000235:genetics; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis / Q000235:genetics; D008297:Male; D008831:Microcephaly / Q000175:diagnosis / Q000235:genetics; D012097:Repressor Proteins / Q000235:genetics; D000074165:Zinc Finger E-box Binding Homeobox 2
chemical_list: D018398:Homeodomain Proteins; D012097:Repressor Proteins; C492363:ZEB2 protein, human; D000074165:Zinc Finger E-box Binding Homeobox 2