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Article

Pulmonary Arterial Hypertension Onset in an Adult Woman With a TBX4 Likely Pathogenic Variant Following Imatinib Administration: A Case Report.

American journal of medical genetics. Part A - 1 Nov 2025

Carbonera Simone, Scelsi Laura, Greco Alessandra, Schirinzi Sandra, Turco Annalisa, Casella Antonella, Carboni Marta, Visani Gaia, Acquaro Mauro, Ghio Stefano, Kalantari Silvia, Valente Enza Maria, Sirchia Fabio

Abstract excerpt

The TBX4 gene has a critical importance in the development of the lower limbs and lungs. Pathogenic variants in this gene are associated with a variable spectrum of skeletal anomalies of the lower limb and pneumological manifestations, with dominant or recessive inheritance. Heterozygous variants are associated with the "ischio-coxo-podo-patellar syndrome with or without pulmonary arterial hypertension (PAH)"....

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Share to PAH gene
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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Hypertension, Pulmonary

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Source

Identifiers

PMID: 40613724
DOI: 10.1002/ajmg.a.64178

Genes

PAH
TBX4

Variants

Provenance

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