Novel Zeb2 gene variation in the Mowat Wilson syndrome (MWS).

@article{Moore2016NovelZG,
  title={Novel Zeb2 gene variation in the Mowat Wilson syndrome (MWS).},
  author={Samuel W. Moore and Karen J Fieggen and Engela Magdalena Honey and Monique G. Zaahl},
  journal={Journal of pediatric surgery},
  year={2016},
  volume={51 2},
  pages={
          268-71
        }
}
BACKGROUND Mowat Wilson syndrome (MWS) is an uncommon association of Hirschsprung's disease (HSCR). Phenotypic features may develop with time, causing initial difficulties in diagnosis. MWS results from haploinsufficiency of the Zinc finger E-box-binding homeobox 2 (ZEB2) gene, and molecular diagnosis of ZEB2 mutation is required to confirm the diagnosis. We report the first confirmed cases of MWS in three children with the typical facial features, mental retardation, absent corpus callosum… CONTINUE READING

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Hirschsprung’s disease and the brain