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

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Smigiel R., Szafranska A., Czyzewska M., Rauch A., Zweier C., Patkowski D.
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vol. 51
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issue 1
111-113
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).
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