Permanent URL to this publication: http://dx.doi.org/10.5167/uzh-31640
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.
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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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|Item Type:||Journal Article, refereed, original work|
|Communities & Collections:||04 Faculty of Medicine > Institute of Medical Genetics|
|DDC:||570 Life sciences; biology
610 Medicine & health
|Deposited On:||18 Mar 2010 13:37|
|Last Modified:||27 Nov 2013 16:30|
|Publisher:||Polska Akademia Nauk|
|Free access at:||Official URL. An embargo period may apply.|
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