Complex genotype-phenotype correlation of MYH11: new insights from monozygotic twins with highly variable expressivity and outcomes

• Main Authors: Xiaojiao Wei (Author), Yunting Ma (Author), Bobo Xie (Author), Chunrong Gui (Author), Meizhen Shi (Author), Xianda Wei (Author), Yan Huang (Author), Xin Fan (Author), Qiaozhen Wei (Author), Qingmei Huang (Author), Li Deng (Author), Chi Zhang (Author), Xiaoli Deng (Author), Baoheng Gui (Author), Yujun Chen (Author)
• Format: Book
• Published: BMC, 2024-05-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background Thoracic aortic aneurysm/dissection (TAAD) and patent ductus arteriosus (PDA) are serious autosomal-dominant diseases affecting the cardiovascular system. They are mainly caused by variants in the MYH11 gene, which encodes the heavy chain of myosin 11. The aim of this study was t...