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Article

PTPN11 Gene Mutations and Its Association with the Risk of Congenital Heart Disease.

Disease markers - 1 Jan 2022

Xu Zi-Qing, Chen Wei-Cheng, Li Yu-Jie, Suo Mei-Jiao, Tian Gui-Xiang, Sheng Wei, Huang Guo-Ying

Abstract excerpt

Congenital heart disease (CHD) is the most common congenital birth defect, with a prevalence of 8.98‰ of all live births in China. PTPN11 has been known to be closely involved in heart developments. In this research, we carried out whole-exome sequencing in nine CHD families and identified eight rare deleterious missense variants of PTPN11 gene in nine probands by stringently filtering criteria. Sanger sequencing...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Protein Tyrosine Phosphatase, Non-Receptor Type 11

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Identifiers

PMID: 35440950
DOI: 10.1155/2022/8290779
PMCID: PMC9013483

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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