Middle Interhemispheric Variant Of Holoprosencephaly: First Prenatal Report Of A Zic2 Missense Mutation

Caroline Gounongbe,Martina Marangoni, Vanessa Gouder De Beauregard,Melanie Delaunoy, Patrice Jissendi,Marie Cassart,Julie Desir

CLINICAL CASE REPORTS（2020）

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摘要

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.

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关键词

middle interhemispheric variant of holoprosencephaly,missense mutation,syntelencephaly,ZIC2

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