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Article

Complex Genomic Rearrangement Involving the TBX4 Promoter Manifesting With Variable Expressivity in a Five-Generation Family.

Human mutation - 1 Jan 2026

Pande Shruti A, Chan Joiner Hiuling, Szafranski Przemyslaw, Gambin Tomasz, Edenborough Frank P, Thompson Rachael E, Parker Michael J, Hammond Carrie, Moledina Shahin, Karolak Justyna A, Stankiewicz Pawel

Abstract excerpt

Variants involving TBX4 are associated with ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension (ICPPS; also known as small patella syndrome), pulmonary arterial hypertension (PAH), and lethal lung developmental disorders. The variability of penetrance and expressivity of TBX4 variants remains a prominent challenge in understanding their genotype-phenotype correlations. We investigated...

Topics

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Bone Diseases, Developmental
Gene Rearrangement
Genetic Association Studies
Hip
Hypertension, Pulmonary

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Promoter Regions, Genetic

T-Box Domain Proteins

Source

Open in PubMed Open full text

Identifiers

PMID: 42549073
DOI: 10.1155/humu/7278477
PMCID: PMC13430282

Genes

TBX4
PAH

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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