[P29] Gene abnormality

[P-168] A case of Helsmoortel—van der Aa syndrome with severe weight loss

Takahiro Yamamoto^1,2, KAZUO KUBOTA², NORIO KAWAMOTO², MINAKO KAWAMOTO², TAKESHI KIMURA², TOHRU HARADA³, MITSUKO NAKASHIMA⁴, HIROTOMO SAITSU⁴, TOSHIYUKI FUKAO² (1.Department of Disability Medicine, Graduate School of Medicine, Gifu University, Gifu, Japan, 2.Department of Pediatrics, Graduate School of Medicine, Gifu University, Gifu, Japan, 3.Department of Surgery, Ogaki Municipal Hospital, Ogaki, Japan, 4.Department of Biochemistry, Hamamatsu University School of Medicine, Hamamatsu, Japan)