A case of Mowat – Wilson syndrome with developmental delays and Hirschsprung ’ s disease

@inproceedings{Lee2015ACO,
  title={A case of Mowat – Wilson syndrome with developmental delays and Hirschsprung ’ s disease},
  author={Darae Lee and Ja Hye Kim and Ja Hyang Cho and M Oh and Beom Hee Lee and Gu Hwan Kim and Jin Ho Choi and Han Wook Yoo},
  year={2015}
}
Mowat-Wilson syndrome is an extremely rare genetic disease that is characterized by intellectual disability, facial dysmorphism, Hirschsprung’s disease, and other congenital anomalies. This disorder is caused by heterozygous mutations or deletions in the zinc finger E-box-binding homeobox-2 gene (ZEB2). Thus far, approximately 200 cases of Mowat-Wilson syndrome have been reported worldwide. In Korea, only one case with a 2q22 deletion, which also affects ZEB2, has been previously reported. Here… CONTINUE READING