Xi Luo, Shan Deng, Ying Jiang, Xiang Wang, Abdulrahman Mustafa Ahmed Al-Raimi, Long Wu, Xiaobin Liu, Yu Song, Xiao Chen, Feng Zhu
Loeys-Dietz syndrome (LDS) is a rare connective tissue genetic disorder that is caused by a pathogenic variant in genes of transforming growth factor (TGF) beta receptor 1 ( TGFBR1 ), TGFBR2 , mothers against decapentaplegic homolog 2 ( SMAD2 ), SMAD3 , TGFB2 , or TGFB3 . It is characterized by aggressive vascular pathology, aneurysms, arterial tortuosity, bifid uvula, hypertelorism, and cleft palate. Here we present a 42-year-old female patient with LDS. The patient underwent rapidly progressing artery aneurysms and life-threatening aortic dissection...
2020: Frontiers in Genetics