A case with de novo HECW2 mutation associated with neurodevelopmental disorder and epilepsy

丸山幸一 (Koichi Maruyama)

Presentation information

Oral Presentation

Genetics / Genetic abnormality

[O16] Genetics / Genetic abnormality 1

Fri. May 31, 2019 3:30 PM - 4:30 PM Room 9 (Conference Room 133+134, 3F, Bldg. 1)

Chair: Tomonari Awaya (Department of Anatomy and Developmental Biology, Kyoto University, Graduate School of Medicine), Nobuhiko Okamoto (Osaka Women's and Children's Hospital)

[O-096] A case with de novo HECW2 mutation associated with neurodevelopmental disorder and epilepsy

丸山幸一 (Koichi Maruyama)¹, 水野誠司², 倉橋直子¹, 遠山美穂^3,5, 加藤耕治^4,5, 荻朋男⁵ (1.愛知県医療療育総合センター中央病院小児神経科, 2.愛知県医療療育総合センター中央病院小児内科, 3.名古屋大学大学院医学系研究科精神医学, 4.名古屋大学大学院医学系研究科小児科学, 5.名古屋大学環境医学研究所発生・遺伝分野)

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