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Pulmonary arterial hypertension caused by mutations in the SOX17 gene is a rare but severe phenotype, associated with congenital heart disease and an increased hemorrhagic risk.
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This page is a summary of: An emerging phenotype of pulmonary arterial hypertension patients carrying SOX17 variants, European Respiratory Journal, May 2022, European Respiratory Society (ERS),
DOI: 10.1183/13993003.00656-2022.
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