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Loss of functions in the PLD1 gene causes congenital heart disease

Loss of functions in the PLD1 gene causes congenital heart disease A team of researchers co-led by Michael Frohman, MD, PhD, of Stony Brook University, has identified an important cause of congenital heart disease. They discovered that certain loss of functions in the PLD1 (Phospholipase D1) gene causes congenital right-sided cardiac valve defects and neonatal cardiomyopathy. Their findings are detailed in a paper published early online in the Journal of Clinical Investigation. Congenital hear...
Noord Holland Michael Frohman Christian Salazar Connie Bezzina Ashkenazi Jews Emily Henderson

Study Identifies Important Cause of Congenital Heart Disease   |

March 1, 2021 4 min read A team of researchers co-led by SUNY Distinguished Professor Michael Frohman, MD, PhD, of Stony Brook University, has identified an important cause of congenital heart disease. They discovered that certain loss of functions in the PLD1 (Phospholipase D1) gene causes congenital right-sided cardiac valve defects and neonatal cardiomyopathy. Their findings are detailed in a paper published early online in the Journal of Clinical Investigation. Researchers Michael Frohma...
Noord Holland Michael Frohman Michael Airola Najim Lahrouchi Christian Salazar Connie Bezzina

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