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Article

Identification and functional analysis of ZIC3 mutations in heterotaxy and related congenital heart defects.

American journal of human genetics - 1 Jan 2004

Ware Stephanie M, Peng Jianlan, Zhu Lirong, Fernbach Susan, Colicos Suzanne, Casey Brett, Towbin Jeffrey, Belmont John W

Abstract excerpt

Mutations in the zinc finger transcription factor ZIC3 cause X-linked heterotaxy and have also been identified in patients with isolated congenital heart disease (CHD). To determine the relative contribution of ZIC3 mutations to both heterotaxy and isolated CHD, we screened the coding region of ZIC3 in 194 unrelated patients, including 61 patients with classic heterotaxy, 93 patients with heart defects...

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Source

Open in PubMed Open full text

Identifiers

PMID: 14681828
DOI: 10.1086/380998
PMCID: PMC1181916

Genes

ZIC3

Provenance

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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