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

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 syntelencephal...

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Autores principales: Gounongbé, Caroline, Marangoni, Martina, Gouder de Beauregard, Vanessa, Delaunoy, Mélanie, Jissendi, Patrice, Cassart, Marie, Désir, Julie
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7364085/
https://www.ncbi.nlm.nih.gov/pubmed/32695376
http://dx.doi.org/10.1002/ccr3.2896
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author Gounongbé, Caroline
Marangoni, Martina
Gouder de Beauregard, Vanessa
Delaunoy, Mélanie
Jissendi, Patrice
Cassart, Marie
Désir, Julie
author_facet Gounongbé, Caroline
Marangoni, Martina
Gouder de Beauregard, Vanessa
Delaunoy, Mélanie
Jissendi, Patrice
Cassart, Marie
Désir, Julie
author_sort Gounongbé, Caroline
collection PubMed
description 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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spelling pubmed-73640852020-07-20 Middle interhemispheric variant of holoprosencephaly: First prenatal report of a ZIC2 missense mutation Gounongbé, Caroline Marangoni, Martina Gouder de Beauregard, Vanessa Delaunoy, Mélanie Jissendi, Patrice Cassart, Marie Désir, Julie Clin Case Rep Case Reports 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. John Wiley and Sons Inc. 2020-04-30 /pmc/articles/PMC7364085/ /pubmed/32695376 http://dx.doi.org/10.1002/ccr3.2896 Text en © 2020 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. This is an open access article under the terms of the http://creativecommons.org/licenses/by-nc-nd/4.0/ License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non‐commercial and no modifications or adaptations are made.
spellingShingle Case Reports
Gounongbé, Caroline
Marangoni, Martina
Gouder de Beauregard, Vanessa
Delaunoy, Mélanie
Jissendi, Patrice
Cassart, Marie
Désir, Julie
Middle interhemispheric variant of holoprosencephaly: First prenatal report of a ZIC2 missense mutation
title Middle interhemispheric variant of holoprosencephaly: First prenatal report of a ZIC2 missense mutation
title_full Middle interhemispheric variant of holoprosencephaly: First prenatal report of a ZIC2 missense mutation
title_fullStr Middle interhemispheric variant of holoprosencephaly: First prenatal report of a ZIC2 missense mutation
title_full_unstemmed Middle interhemispheric variant of holoprosencephaly: First prenatal report of a ZIC2 missense mutation
title_short Middle interhemispheric variant of holoprosencephaly: First prenatal report of a ZIC2 missense mutation
title_sort middle interhemispheric variant of holoprosencephaly: first prenatal report of a zic2 missense mutation
topic Case Reports
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7364085/
https://www.ncbi.nlm.nih.gov/pubmed/32695376
http://dx.doi.org/10.1002/ccr3.2896
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