8-15-2 ⓔ文献

  1. Mizuguchi T, Collod–Beroud G, et al: Heterozygous TGFBR2 mutations in Marfan syndrome. Nat Genet, 2004; 36: 855–860.

  2. Loeys BL, Chen J, et al: A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2. Nat Genet, 2005; 37: 275–281.

  3. MacCarrick G, Black JH 3rd, et al: Loeys–Dietz syndrome: a primer for diagnosis and management. Genet Med, 2014; 16: 576–587.

  4. Takeda N, Hara H, et al: TGF–beta signaling–related genes and thoracic aortic aneurysms and dissections. Int J Mol Sci, 2018; 19: 2125.

  5. MacFarlane EG, Parker SJ, et al: Lineage–specific events underlie aortic root aneurysm pathogenesis in Loeys–Dietz syndrome. J Clin Invest, 2019; 129: 659–675.

  6. Schepers D, Tortora G, et al: A mutation update on the LDS–associated genes TGFB2/3 and SMAD2/3. Hum Mutat, 2018; 39: 621–634.