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

• Authors: R. Smigiel , A. Szafranska , M. Czyzewska , A. Rauch , C. Zweier , D. Patkowski
• 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).

Keywords

EN

CORRELATION; HIRSCHSPRUNG DISEASE; MOWAT-WILSON SYNDROME; ZEB2 GENE; ZFHX1B GENE

Discipline

• GENETICS: GENETICS

• Publisher: Institute of Plant Genetics, Polish Academy of Sciences
• Journal: Journal of Applied Genetics
• Year: 2010
• Volume: 51
• Issue: 1
• Pages: 111-113

Contributors

author

R. Smigiel

author

A. Szafranska

author

M. Czyzewska

author

A. Rauch

author

C. Zweier

author

D. Patkowski

• Document Type: ARTICLE
• Publication order reference: R. Smigiel, Department of Genetics, Wroclaw Medical University, Marcinkowskiego 1, Wroclaw, Poland