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 theZEB2 gene. Moreover, molecular karyotyping revealed a deletion involving further genes (KYNU, ARHGAP15, andGTDC1).
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Smigiel, R., Szafranska, A., Czyzewska, M. et al. Severe clinical course of Hirschsprung disease in a Mowat-Wilson syndrome patient. J Appl Genet 51, 111–113 (2010). https://doi.org/10.1007/BF03195718
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DOI: https://doi.org/10.1007/BF03195718