Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
8310274 | Clinica Chimica Acta | 2016 | 5 Pages |
Abstract
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 syndrome, which would be the largest group of Loeys-Dietz syndrome ever reported in China till now. 10 likely pathogenic mutations or rare variants of uncertain significance were found. These results expanded the mutation spectrum of Loeys-Dietz syndrome and might be implicated in its wide phenotypic spectrum.
Keywords
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Authors
Mingyao Luo, Hang Yang, Kunlun Yin, Qianlong Chen, Jing Zhang, Yuxin Fan, Zhou Zhou, Qian Chang,