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Article

Holoprosencephaly in a family segregating novel variants in ZIC2 and GLI2.

American journal of medical genetics. Part A - 1 Apr 2011

Wannasilp Nilrat, Solomon Benjamin D, Warren-Mora Nicole, Clegg Nancy J, Delgado Mauricio R, Lacbawan Felicitas, Hu Ping, Winder Thomas L, Roessler Erich, Muenke Maximilian

Abstract excerpt

Holoprosencephaly (HPE) is the most common malformation of the human forebrain. Typical manifestations in affected patients include a characteristic pattern of structural brain and craniofacial anomalies. HPE may be caused by mutations in over 10 identified genes; the inheritance is traditionally viewed as autosomal dominant with highly variable expressivity and incomplete penetrance. We present the description...

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Source

Identifiers

PMID: 21416594
DOI: 10.1002/ajmg.a.33903

Genes

GLI2
ZIC2

Provenance

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.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Holoprosencephaly in a family segregating novel variants in ZIC2 and GLI2.PMID 21416594Read ↗

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

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

Identification of novel mutations in SHH and ZIC2 in a South American (ECLAMC) population with holoprosencephaly.Semantic proximity Read ↗

ZIC2 in Holoprosencephaly.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 ↗

In-depth investigations of adolescents and adults with holoprosencephaly identify unique characteristics.Semantic proximity Read ↗

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

A patient with a mild holoprosencephaly spectrum phenotype and heterotaxy and a 1.3 Mb deletion encompassing GLI2.Semantic proximity Read ↗

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 ↗

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

Pathogenic mutations in GLI2 cause a specific phenotype that is distinct from holoprosencephaly.Semantic proximity Read ↗

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