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Article

An homozygous mutation in KCNK3 is associated with an aggressive form of hereditary pulmonary arterial hypertension.

Clinical genetics - 1 Mar 2017

Navas Tejedor P, Tenorio Castaño J, Palomino Doza J, Arias Lajara P, Gordo Trujillo G, López Meseguer M, Román Broto A, Lapunzina Abadía P, Escribano Subía P

Abstract excerpt

Pulmonary arterial hypertension (PAH) is a rare devastating disease characterized by a high genetic heterogeneity with several related genes recently described, including BMPR2,TBX4 and KCNK3. The association between KCNK3 and PAH has been recently identified, but the prognosis and phenotype associated with these mutations have been poorly described. We studied a series of 136 idiopathic and hereditary PAH...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 27649371
DOI: 10.1111/cge.12869

Genes

KCNK3
PAH
BMPR2
TBX4

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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