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Article

Long-Term Effect of TBX4 Germline Mutation on Pulmonary Clinico-Histopathologic Phenotype.

Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society - 1 Jan 2000

Doughty Elizabeth S, Norvik Christian, Levin Alice, Bodmer Jenna, Tran-Lundmark Karin, Abman Steven H, Galambos Csaba

Abstract excerpt

Tbx4 protein, expressed in mesenchyme of the developing lung, contributes to airway branching and distal lung growth. An association between pediatric onset of pulmonary arterial hypertension (PAH) and genetic variations coding for the T-box transcription factor 4 gene (TBX4) has been increasingly recognized. Tbx4-related PAH onset has a bimodal age distribution, including severe to lethal PAH in newborns and...

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Familial Primary Pulmonary Hypertension
Germ-Line Mutation
Infant, Newborn
Lung
Pulmonary Arterial Hypertension

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

T-Box Domain Proteins

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PMID: 37801629
DOI: 10.1177/10935266231199933

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