Smigiel, R; Szafranska, A; Czyzewska, M; Rauch, A; Zweier, C; Patkowski, D (2010). Severe clinical course of Hirschsprung disease in a Mowat-Wilson syndrome patient. Journal of Applied Genetics:1-3.
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).
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).
| Item Type: | Journal Article, refereed, original work |
|---|---|
| Communities & Collections: | 04 Faculty of Medicine > Institute of Medical Genetics |
| Dewey Decimal Classification: | 570 Life sciences; biology
610 Medicine & health |
| Scopus Subject Areas: | Life Sciences > Genetics |
| Language: | English |
| Date: | January 2010 |
| Deposited On: | 18 Mar 2010 13:37 |
| Last Modified: | 02 Jul 2022 04:31 |
| Publisher: | Polska Akademia Nauk |
| ISSN: | 1234-1983 |
| OA Status: | Green |
| Free access at: | Official URL. An embargo period may apply. |
| Publisher DOI: | https://doi.org/10.1007/BF03195718 |
| Official URL: | http://jag.igr.poznan.pl/2010-Volume-51/1/abstracts/553.html |
| PubMed ID: | 20145308 |
Smigiel, R