Article
Genetic testing of 10 patients with features of Loeys-Dietz syndrome.
Clinica chimica acta; international journal of clinical chemistry - 1 May 2016
Luo Mingyao, Yang Hang, Yin Kunlun, Chen Qianlong, Zhang Jing, Fan Yuxin, Zhou Zhou, Chang Qian
Abstract excerpt
Inherited aortopathy, characterized with a high risk of fetal aortic aneurysms/dissections, could occur secondary to several syndromes. To identify genetic mutations and help to give a precise diagnosis, we performed a gene panel testing, involving 15 genes related to inherited aortopathy. Here we reported 10 patients, combining with the genetic testing results, were diagnosed or suspected with Loeys-Dietz...
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