[Mowat-Wilson syndrome: a report of three Danish cases].

https://arctichealth.org/en/permalink/ahliterature131639
Source
Ugeskr Laeger. 2011 Sep 5;173(36):2199-200
Publication Type
Article
Date
Sep-5-2011
Author
Karin Bækgaard Nissen
Charlotte Søndergaard
Thomas Thelle
Rikke Steensbjerre Møller
Author Affiliation
Pædiatrisk Afdeling, Regionshospitalet Herning, 7400 Herning, Denmark. karinbgaard@gmail.com
Source
Ugeskr Laeger. 2011 Sep 5;173(36):2199-200
Date
Sep-5-2011
Language
Danish
Publication Type
Article
Keywords
Child
Denmark
Facies
Female
Hirschsprung Disease - diagnosis - genetics
Homeodomain Proteins - genetics
Humans
Intellectual Disability - diagnosis - genetics
Male
Microcephaly - diagnosis - genetics
Repressor Proteins - genetics
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.
PubMed ID
21893004 View in PubMed
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