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Article

Possible association of NTDs with a polyhistidine tract polymorphism in the ZIC2 gene.

American journal of medical genetics - 1 Mar 2002

Brown Lúcia Y, Hodge Susan E, Johnson William G, Guy Sandra G, Nye Jeffrey S, Brown Stephen

Abstract excerpt

Neural tube defects (NTDs) and brain malformations represent a common finding in chromosome 13q deletion patients. Hemizygosity for ZIC2, which is located in the 13q32 critical deletion region, results in holoprosencephaly (HPE) in humans, and diminished expression of ZIC2 results in HPE as well as lumbosacral NTDs in mice. Taken together, these observations led us to hypothesize that ZIC2 mutations may be a...

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Source

Identifiers

PMID: 11857562
DOI: 10.1002/ajmg.10221

Genes

ZIC2

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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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Possible association of NTDs with a polyhistidine tract polymorphism in the ZIC2 gene.PMID 11857562Read ↗

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Holoprosencephaly due to mutations in ZIC2: alanine tract expansion mutations may be caused by parental somatic recombination.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 ↗

Genetic variants in ZIC1, ZIC2, and ZIC3 are not major risk factors for neural tube defects in humans.Semantic proximity Read ↗

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

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