前脑无裂畸形的中间脑间变异型：ZIC2错义突变的首例产前报告。
Middle interhemispheric variant of holoprosencephaly: First prenatal report of a ZIC2 missense mutation.
作者信息
Gounongbé Caroline, Marangoni Martina, Gouder de Beauregard Vanessa, Delaunoy Mélanie, Jissendi Patrice, Cassart Marie, Désir Julie
机构信息
Department of Fetal Medicine CHU Saint-Pierre Brussels Belgium.
Center of Human Genetics Hôpital Erasme Université Libre de Bruxelles Brussels Belgium.
出版信息
Clin Case Rep. 2020 Apr 30;8(7):1287-1292. doi: 10.1002/ccr3.2896. eCollection 2020 Jul.
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.
我们报告了一例产前发现的中脑间变异病例，该病例与ZIC2基因中的一个新发错义变异（NM_007129.5:c.1109G>A p.(Cys370Tyr)）相关。我们的病例代表了首次在产前描述与并脑畸形相关的ZIC2错义突变。
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