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Article

Identification and functional analysis of CITED2 mutations in patients with congenital heart defects.

Human mutation - 1 Dec 2005

Sperling Silke, Grimm Christina H, Dunkel Ilona, Mebus Siegrun, Sperling Hans-Peter, Ebner Arno, Galli Raffaello, Lehrach Hans, Fusch Christoph, Berger Felix, Hammer Stefanie

Abstract excerpt

Recent reports have demonstrated that mice lacking the transcription factor Cited2 die in utero showing various cardiac malformations. We present for the first time functionally relevant mutations of CITED2 in patients with congenital heart defects (CHDs). CITED2 encodes a CREBBP/EP300 interacting transcriptional modulator of HIF1A and TFAP2. To study the potential impact of sequence variations in CITED2 for CHDs...

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Source

Identifiers

PMID: 16287139
DOI: 10.1002/humu.20262

Genes

CITED2
CREBBP

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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