“PRDM16 Loss-of-Function Variant Impairs Myocardial Development and Causes Noncompaction Cardiomyopathy in Humans and Mice”

https://pubmed.ncbi.nlm.nih.gov/38113297

The abstract reports the discovery of a PRDM16 loss-of-function variant that causes impaired myocardial development and noncompaction cardiomyopathy in humans and mice, associated with altered TGF-β signaling.