Recent research identifies loss of function variants in the ADAMTS6 gene as a cause of a novel connective tissue disorder characterized by heart defects, aortic aneurysms, and neurodevelopmental features. This discovery could lead to new diagnostic and therapeutic strategies for affected patients.
loss of function variants in adamts6 a new connective tissue disorder with heart defect aortic aneurysm and neurodevelopmental features
Original title: “Loss of function variants in ADAMTS6: a new connective tissue disorder with heart defect, aortic aneurysm and neurodevelopmental features.”