Article
Polymicrogyria in a 10-month-old boy with Mowat-Wilson syndrome.
American journal of medical genetics. Part A - 1 Oct 2015
Murray Susan B, Spangler Brooke B, Helm Benjamin M, Vergano Samantha Schrier
Abstract excerpt
Mowat-Wilson syndrome (MWS, OMIM# 235730) is a multiple congenital anomaly disorder characterized by intellectual disability, seizures, microcephaly, and distinct facial features. Additional findings include structural brain abnormalities, eye defects, congenital heart defects, Hirschsprung disease (HSCR), and genitourinary anomalies. It is caused by de novo heterozygous mutations or deletions of the ZEB2 gene on...
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