Presentation Information

[O18-2]A case of hydrops fetalis with aortic valve stenosis with a gene variant of NOTCH1 through whole-exome sequencing

Yuki Kakinuma1, Katsusuke Ozawa1, Fuyuki Hasegawa2, Saori Baba1, Rinko Ibi1, Akiko Konishi1, Kazuhiro Kajiwara1, Jin Muromoto1, Rika Sugibayashi1, Ayano Miura1, Susumu Urata3, Ki-Sung Kim3, Kosaki Rika4, Kenichiro Hata5, Seiji Wada1 (1.Center for Maternal-Fetal, Neonatal and Reproductive Medicine, National Center for Child Health and Development, Tokyo, Japan, 2.Center for Genetic Medicine, National Center for Child Health and Development, Tokyo, Japan, 3.Division of Cardiology, National Center for Child Health and Development, Tokyo, Japan, 4.Division of Medical Genetics, National Center for Child Health and Development, Tokyo, Japan, 5.Department of Human Molecular Genetics, Gunma University Graduate School of Medicine, Japan)

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