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Article

Epiblastic Cited2 deficiency results in cardiac phenotypic heterogeneity and provides a mechanism for haploinsufficiency.

Cardiovascular research - 1 Aug 2008

MacDonald Simon T, Bamforth Simon D, Chen Chiann-Mun, Farthing Cassandra R, Franklyn Angela, Broadbent Carol, Schneider Jürgen E, Saga Yumiko, Lewandoski Mark, Bhattacharya Shoumo

Abstract excerpt

AIMS: Deletion of the transcription factor Cited2 causes penetrant and phenotypically heterogenous cardiovascular and laterality defects and adrenal agenesis. Heterozygous human CITED2 mutation is associated with congenital heart disease, suggesting haploinsufficiency. Cited2 functions partly via a Nodal-->Pitx2c pathway controlling left-right patterning. In this present study we investigated the primary site of...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 18440989
DOI: 10.1093/cvr/cvn101
PMCID: PMC2492730

Genes

CITED2

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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Epiblastic Cited2 deficiency results in cardiac phenotypic heterogeneity and provides a mechanism for haploinsufficiency.PMID 18440989Read ↗

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