PL EN


Preferences help
enabled [disable] Abstract
Number of results
2010 | 51 | 1 | 111-113
Article title

Severe clinical course of Hirschsprung disease in a Mowat-Wilson syndrome patient

Title variants
Languages of publication
EN
Abstracts
EN
We present a clinical case of a female infant with multiple anomalies and distinctive facial features, with an exceptionally severe clinical course of Hirschsprung disease. The girl was also diagnosed with Mowat-Wilson syndrome, confirmed by molecular analysis as a heterozygous deletion of the ZEB2 gene. Moreover, molecular karyotyping revealed a deletion involving further genes (KYNU, ARHGAP15, and GTDC1).
Discipline
Publisher

Year
Volume
51
Issue
1
Pages
111-113
Physical description
Contributors
author
author
author
author
author
author
References
Document Type
ARTICLE
Publication order reference
R. Smigiel, Department of Genetics, Wroclaw Medical University, Marcinkowskiego 1, Wroclaw, Poland
Identifiers
YADDA identifier
bwmeta1.element.element-from-psjc-8571da86-2b01-3548-9924-e3d30b0bf222
JavaScript is turned off in your web browser. Turn it on to take full advantage of this site, then refresh the page.