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- Ersida Buraniqi and Manikum Moodley.
- Istanbul School of Medicine, Istanbul University, Istanbul, Turkey.
- J. Child Neurol. 2015 Jan 1;30(1):32-6.
AbstractMowat-Wilson syndrome is a recently delineated multiple congenital anomaly syndrome characterized by a distinctive facial appearance in association with intellectual disability, microcephaly, agenesis of the corpus callosum, seizures, congenital heart disease, Hirschsprung disease, short stature, and genitourinary anomalies. We report a 2-year-10-month-old white female with this syndrome caused by mutations in the ZEB2 gene, and in addition a duplication of the 22q11.23, a previously undocumented occurrence.© The Author(s) 2014.
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