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2010 | 51 | 1 | 111-113
Article title

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

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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
Year
Volume
51
Issue
1
Pages
111-113
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References
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ARTICLE
Publication order reference
R. Smigiel, Department of Genetics, Wroclaw Medical University, Marcinkowskiego 1, Wroclaw, Poland
YADDA identifier
bwmeta1.element.element-from-psjc-8571da86-2b01-3548-9924-e3d30b0bf222
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