Presentation Information
[P2-06-9]Two cases of Loeys-Dietz syndrome with different phenotypes induced by TGFBR2 Q532X
○Natsuko Inagaki1,2, Kazuyo Kiribayashi1, Sawako Tajima1, Dong Jingyi1, Masato Bingo1, Shinji Suzuki1,3, Hironobu Okuno1,3, Yasuyo Kashiwagi3 (1.Tokyo Medical University hospital, Clinical Genetics center, 2.Department of Cardiology, Tokyo Medical University, 3.Department of Pediatrics and Adolescent Medicine, Tokyo Medical University)