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Article

ZIC2 in Holoprosencephaly.

Advances in experimental medicine and biology - 1 Jan 2018

Barratt Kristen S, Arkell Ruth M

Abstract excerpt

The ZIC2 transcription factor is one of the most commonly mutated genes in Holoprosencephaly (HPE) probands. HPE is a severe congenital defect of forebrain development which occurs when the cerebral hemispheres fail to separate during the early stages of organogenesis and is typically associated with mispatterning of the embryonic midline. Recent study of genotype-phenotype correlations in HPE cases has defined...

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Source

Identifiers

PMID: 29442327
DOI: 10.1007/978-981-10-7311-3_14

Genes

ZIC2

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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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ZIC2 in Holoprosencephaly.PMID 29442327Read ↗

The full spectrum of holoprosencephaly-associated mutations within the ZIC2 gene in humans predicts loss-of-function as the predominant disease mechanism.Semantic proximity Read ↗

Mutations in ZIC2 in human holoprosencephaly: description of a novel ZIC2 specific phenotype and comprehensive analysis of 157 individuals.Semantic proximity Read ↗

Holoprosencephaly in a family segregating novel variants in ZIC2 and GLI2.Semantic proximity Read ↗

Zic2 mutation causes holoprosencephaly via disruption of NODAL signalling.Semantic proximity Read ↗

Zic2-associated holoprosencephaly is caused by a transient defect in the organizer region during gastrulation.Semantic proximity Read ↗

Mutations in holoprosencephaly.Semantic proximity Read ↗

Holoprosencephaly due to mutations in ZIC2, a homologue of Drosophila odd-paired.Semantic proximity Read ↗

Molecular screening of SHH, ZIC2, SIX3, and TGIF genes in patients with features of holoprosencephaly spectrum: Mutation review and genotype-phenotype correlations.Semantic proximity Read ↗

Holoprosencephaly and ZIC2 microdeletions: novel clinical and epidemiological specificities delineated.Semantic proximity Read ↗

The unfolding clinical spectrum of holoprosencephaly due to mutations in SHH, ZIC2, SIX3 and TGIF genes.Semantic proximity Read ↗

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