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Article

[Prenatal diagnosis of Joubert syndrome:one case report and literature review].

Zhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciences - 25 May 2017

Wen Hong, Chen Lu, Yan Kai, He Jing

Abstract excerpt

A 25-year-old nulliparity underwent prenatal ultrasonography, and the fetal cerebellar abnormality was suspected. The fetal MRI showed 'molar tooth sign' in midbrain and cerebellar vermis hypoplasia. The fetal cerebellar vermis hypoplasia was confirmed by MRI imaging and autopsy after induced abortion. The next-generation sequencing showed that the fetus had a heterozygous mutation of CC2D2A gene (c.2728C > T and...

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Identifiers

PMID: 29039169
DOI: 10.3785/j.issn.1008-9292.2017.06.08
PMCID: PMC10396837

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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