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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease patent arterial duct
Comorbidity C0003486|aortic aneurysm
Sentences 3
PubMedID- 21604106 Mutations in mybpc3, actc1 and α-myosin heavy chain (myh6) have been implicated in septal defects [25–27], while mutations in acta2 and myh11, genes encoding sarcomeric proteins of smooth muscle cells, can lead to aortic aneurysm with patent ductus arteriosus [28, 29].
PubMedID- 24771747 Ascending aortic aneurysm in adult with patent ductus arteriosus.
PubMedID- 25861618 For example, cardiac actin was shown to be involved in pathogenesis of cardiac septum defects and smooth muscle actin in pathogenesis of aortic aneurysm in combination with patent ductus arteriosus (pda).

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