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Prenatal phenotype of a homozygous nonsense MPDZ variant in a fetus with severe congenital hydrocephalus.

Prenatal diagnosis - 1 May 2024

Vanden Eynde Nathalie, Van den Mooter Eve, Vantroys Elise, De Schutter Elke, Leus Astrid, Keymolen Kathelijn, Dimitrov Boyan, van Berkel Kim

Abstract excerpt

The fetal phenotype of MPDZ-associated congenital hydrocephalus type 2 with or without brain or eye anomalies (HYC2) (OMIM 615219) is not well described in the literature. The present case shows not previously published clinical fetal features that are detected during routine second trimester ultrasound screening at 21 weeks of gestation such as bilateral ventriculomegaly, lean cavum septum pellucidum, suspicion...

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Identifiers

PMID: 38498110
DOI: 10.1002/pd.6546

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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