Severe clinical course of Hirschsprung disease in a Mowat-Wilson syndrome patient |
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| Authors: | R Smigiel A Szafranska M Czyzewska A Rauch Ch Zweier D Patkowski |
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| Institution: | (1) Department of Pediatric Neurology, Clinical Medical Centre, Rijeka, Istarska 43, Rijeka, Croatia;(2) Department of Biomedical Genetics, University Medical Centre, Rijeka, Croatia; |
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| 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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