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Article

PITX2 Loss-of-Function Mutation Contributes to Congenital Endocardial Cushion Defect and Axenfeld-Rieger Syndrome.

PloS one - 1 Jan 2015

Zhao Cui-Mei, Peng Lu-Ying, Li Li, Liu Xing-Yuan, Wang Juan, Zhang Xian-Ling, Yuan Fang, Li Ruo-Gu, Qiu Xing-Biao, Yang Yi-Qing

Abstract excerpt

Congenital heart disease (CHD), the most common type of birth defect, is still the leading non-infectious cause of infant morbidity and mortality in humans. Aggregating evidence demonstrates that genetic defects are involved in the pathogenesis of CHD. However, CHD is genetically heterogeneous and the genetic components underpinning CHD in an overwhelming majority of patients remain unclear. In the present study,...

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Source

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Identifiers

PMID: 25893250
DOI: 10.1371/journal.pone.0124409
PMCID: PMC4404345

Genes

PITX2
ECD

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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