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


Smigiel, R; Szafranska, A; Czyzewska, M; Rauch, A; Zweier, C; Patkowski, D (2010). Severe clinical course of Hirschsprung disease in a Mowat-Wilson syndrome patient. Journal of Applied Genetics:1-3.

Abstract

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).

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).

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Additional indexing

Item Type:Journal Article, refereed, original work
Communities & Collections:04 Faculty of Medicine > Institute of Medical Genetics
Dewey Decimal Classification:570 Life sciences; biology
610 Medicine & health
Language:English
Date:January 2010
Deposited On:18 Mar 2010 13:37
Last Modified:05 Apr 2016 13:58
Publisher:Polska Akademia Nauk
ISSN:1234-1983
Free access at:Official URL. An embargo period may apply.
Publisher DOI:10.1007/BF03195718
Official URL:http://jag.igr.poznan.pl/2010-Volume-51/1/abstracts/553.html
PubMed ID:20145308
Permanent URL: http://doi.org/10.5167/uzh-31640

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