Routine Genetic Testing for Thoracic Aortic Aneurysm and Dissection in a Clinical Setting.
New Haven, United States. In Ann Thorac Surg, Nov 2015
The following 21-gene panel was tested by WES: ACTA2, ADAMTS10, COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, ELN, FBLN4, FLNA, FBN1, FBN2, MYH11, MYLK, NOTCH1, PRKG1, SLC2A10, SMAD3, TGFB2, TGFBR1, TGFBR2.
Genetics of hereditary large vessel diseases.
Ōsaka, Japan. In J Hum Genet, Nov 2015
Genes identified for these diseases include FBN1, TGFBR1, TGFBR2, SMAD3, TGFB2, TGFB3, SKI, EFEMP2, COL3A1, FLNA, ACTA2, MYH11, MYLK and SLC2A10, as well as others.