Mowat-Wilson syndrome
Definition:
Mowat-Wilson syndrome (MWS) is a multiple congenital anomaly syndrome characterized by a distinct facial phenotype, intellectual deficiency, epilepsy and variable congenital malformations including Hirschsprung disease, genitourinary anomalies, congenital heart defects, agenesis of the corpus callosum and eye anomalies. MWS is caused by heterozygous mutations or deletions of the ZEB2/ZFHX1B gene.
References:
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[1]. Livia Garavelli, et al. Mowat-Wilson syndrome. Orphanet J Rare Dis. 2007 Oct 24;2:42. [Content Brief]
[2]. Shuang Cui, et al. Intrahepatic biliary anomalies in a patient with Mowat-Wilson syndrome uncover a role for the zinc finger homeobox gene zfhx1b in vertebrate biliary development. J Pediatr Gastroenterol Nutr. 2011 Mar;52(3):339-44. [Content Brief]
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