Article
Complex genotype-phenotype correlation of MYH11: new insights from monozygotic twins with highly variable expressivity and outcomes.
BMC medical genomics - 21 May 2024
Wei Xiaojiao, Ma Yunting, Xie Bobo, Gui Chunrong, Shi Meizhen, Wei Xianda, Huang Yan, Fan Xin, Wei Qiaozhen, Huang Qingmei, Deng Li, Zhang Chi, Deng Xiaoli, Gui Baoheng, Chen Yujun
Abstract excerpt
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 to evaluate the genotype-phenotype correlation of MYH11 from a distinctive perspective based on a pair of monozygotic twins....
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