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Article

Genetic analyses in a cohort of children with pulmonary hypertension.

The European respiratory journal - 1 Oct 2016

Levy Marilyne, Eyries Mélanie, Szezepanski Isabelle, Ladouceur Magalie, Nadaud Sophie, Bonnet Damien, Soubrier Florent

Abstract excerpt

The prevalence of germline mutations in paediatric pulmonary hypertension (PH) is poorly documented. The objective of this study was to determine the mutation frequency in PH genes in a paediatric cohort and describe the clinical characteristics of mutation carriers.The study involved 66 index cases with PH: 35 children with idiopathic pulmonary arterial hypertension (IPAH); five children with familial PAH...

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Source

Identifiers

PMID: 27587546
DOI: 10.1183/13993003.00211-2016

Genes

PAH
ACVRL1
TBX4
BMPR2

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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