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. 2010;51(1):111-3.
doi: 10.1007/BF03195718.

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

R Smigiel  1 , A Szafranska, M Czyzewska, A Rauch, Ch Zweier, D Patkowski
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Free article

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

R Smigiel et al. J Appl Genet. 2010.
Free article

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).

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