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Article

Whole exome sequencing unravels genetic architecture and its clinical implications in pediatric pulmonary arterial hypertension.

International journal of cardiology - 15 Oct 2025

Jiang Dai-Ji, Yang Yi-Jia, Wang Yu-Zhen, Zhang Xu, Chan Wen-Xiu, Yu Ting-Ting, Chen Hao, Zhang Hao, Yan Yi, Fu Li-Jun

Abstract excerpt

BACKGROUND: Pulmonary arterial hypertension (PAH) is a severe disease with significant genetic predisposition. While genetic architecture and clinical implications in pediatric PAH remain unclear. METHODS: We retrospectively analyzed clinical and genetic data from 218 pediatric PAH patients including 115 idiopathic/heritable PAH (IPAH/HPAH) and 103 PAH associated with congenital heart disease (PAH-CHD) admitted...

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Topics

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 40516660
DOI: 10.1016/j.ijcard.2025.133515

Genes

PAH
BMPR2
ACVRL1
KCNK3
SOX17

Provenance

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