Middle interhemispheric variant of holoprosencephaly: First prenatal report of a ZIC2 missense mutation
Caroline Gounongbé1, Martina Marangoni2, Vanessa Gouder de Beauregard3
1Department of Fetal Medicine CHU Saint-Pierre Brussels Belgium.
Clinical Case Reports
|July 23, 2020
Abstract:
We present a case of a middle interhemispheric variant of antenatal discovery associated with a de novo missense variant (NM_007129.5: c.1109G>A p.(Cys370Tyr)) in the ZIC2 gene. Our case represents the first prenatal description of a ZIC2 missense mutation found in association with syntelencephaly.
