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Genetic Evaluation in a Cohort of 126 Dutch Pulmonary Arterial Hypertension Patients.

Genes - 13 Oct 2020

van den Heuvel Lieke M, Jansen Samara M A, Alsters Suzanne I M, Post Marco C, van der Smagt Jasper J, Handoko-De Man Frances S, van Tintelen J Peter, Gille Hans, Christiaans Imke, Vonk Noordegraaf Anton, Bogaard HarmJan, Houweling Arjan C

Abstract excerpt

Pulmonary arterial hypertension (PAH) is a severe, life-threatening disease, and in some cases is caused by genetic defects. This study sought to assess the diagnostic yield of genetic testing in a Dutch cohort of 126 PAH patients. Historically, genetic testing in the Netherlands consisted of the analysis of BMPR2 and SMAD9. These genes were analyzed in 70 of the 126 patients. A (likely) pathogenic (LP/P) variant...

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Identifiers

PMID: 33066286
DOI: 10.3390/genes11101191
PMCID: PMC7602048

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