JOURNAL OF
APPLIED GENETICS
        
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Journal of Applied Genetics 51(1), 2010, pp. 111-113

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

R. Smigiel, A. Szafranska, M. Czyzewska, A. Rauch, Ch. Zweier, D. Patkowski


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).

Key words: Mowat-Wilson syndrome, Hirschsprung disease, ZEB2 gene, ZFHX1B gene, genotype-phenotype correlation

Correspondence: R. Smigiel, Department of Genetics, Wroclaw Medical University, Marcinkowskiego 1, 50-368 Wroclaw, Poland; e-mail: smigiel@gen.am.wroc.pl

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