ZEB2 Gene Mutation and Duplication of 22q11.23 in Mowat-Wilson Syndrome


Buraniqi E., Moodley M.

JOURNAL OF CHILD NEUROLOGY, cilt.30, ss.32-36, 2015 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 30 Konu: 1
  • Basım Tarihi: 2015
  • Doi Numarası: 10.1177/0883073814535501
  • Dergi Adı: JOURNAL OF CHILD NEUROLOGY
  • Sayfa Sayıları: ss.32-36

Özet

Mowat-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.