Middle interhemispheric variant of holoprosencephaly: First prenatal report of a ZIC2 missense mutation

Middle interhemispheric variant of holoprosencephaly: First prenatal report of a ZIC2 missense mutation

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 synte...

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Bibliographic Details
Main Authors: Caroline Gounongbé, Martina Marangoni, Vanessa Gouder de Beauregard, Mélanie Delaunoy, Patrice Jissendi, Marie Cassart, Julie Désir
Format: Article
Language:English
Published: Wiley 2020-07-01
Series:Clinical Case Reports
Subjects:
middle interhemispheric variant of holoprosencephaly
missense mutation
syntelencephaly
ZIC2
Online Access:https://doi.org/10.1002/ccr3.2896

Internet

https://doi.org/10.1002/ccr3.2896

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