Middle interhemispheric variant of holoprosencephaly: First prenatal report of a ZIC2 missense mutation.
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ABSTRACT:
SUBMITTER: Gounongbe C
PROVIDER: S-EPMC7364085 | biostudies-literature | 2020 Jul
REPOSITORIES: biostudies-literature
Publications
Middle interhemispheric variant of holoprosencephaly: First prenatal report of a ZIC2 missense mutation.
Gounongbé Caroline C Marangoni Martina M Gouder de Beauregard Vanessa V Delaunoy Mélanie M Jissendi Patrice P Cassart Marie M Désir Julie J
Clinical case reports 20200430 7
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. ...[more]
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