Rare Inherited Mutations Shown to Cause Severe Childhood PAH

Rare Inherited Mutations Shown to Cause Severe Childhood PAH

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Rare Inherited Mutations Shown to Cause Severe Childhood PAH

Rare mutations in the ATP13A3 gene caused a severe inherited form of childhood-onset pulmonary arterial hypertension (PAH), a case study of three families showed. These findings demonstrate the “growing importance” of genetic testing in patients with childhood-onset PAH, the scientists said, noting that the genetic basis of the disease is “heterogeneous, with at least 26 genes displaying putative evidence for disease causality.” The researchers noted that PAH has many potential causes, with approximately 15 to 20%…

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