Article
Genetic testing of the FBN1 gene in Chinese patients with Marfan/Marfan-like syndrome.
Clinica chimica acta; international journal of clinical chemistry - 1 Aug 2016
Yang Hang, Luo Mingyao, Chen Qianlong, Fu Yuanyuan, Zhang Jing, Qian Xiangyang, Sun Xiaogang, Fan Yuxin, Zhou Zhou, Chang Qian
Abstract excerpt
Marfan syndrome (MFS) is an autosomal dominant connective tissue disorder typically involving the ocular, skeletal and cardiovascular systems, and aortic aneurysms/dissection mainly contributes to its mortality. Here, we performed genetic testing of the FBN1 gene in 39 Chinese probands with Marfan/Marfan-like syndrome and their related family members by Sanger sequencing. In total, 29 pathogenic/likely pathogenic...
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