{Reference Type}: Journal Article
{Title}: Genetic testing of 10 patients with features of Loeys-Dietz syndrome.
{Author}: Luo M;Yang H;Yin K;Chen Q;Zhang J;Fan Y;Zhou Z;Chang Q;
{Journal}: Clin Chim Acta
{Volume}: 456
{Issue}: 0
{Year}: May 2016 1
{Factor}: 6.314
{DOI}: 10.1016/j.cca.2016.02.005
{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.