[O17] Oral Session 17　Rare Diseases

[O17-4] A novel splicing and recurrent variants in ID4 domain-specific Menke-Hennekam syndrome cause histone hyperacetylation

Taiga Aoki^1,5, Yasuyuki Fukuhara², Tetsumin So², Rika Kosaki², Arisa Igarashi¹, Masahiko Yamamori¹, Nana Kobayashi¹, Yukimi Abe¹, Yumi Enomoto¹, Kumiko Yanagi¹, Tomoko Kawai³, Kenji Kurosawa², Yoichi Matsubara^1,4, Tadashi Kaname^1,5 (1.Department of Genome Medicine, National Center for Child Health and Development, Tokyo, 2.Division of Medical Genetics, National Center for Child Health and Development, Tokyo, Japan, 3.Department of Maternal-Fetal Biology, National Research Institute for Child Health and Development, 4.CRIFM Prenatal Medical Clinic, 5.Department of Advanced Pediatric Medicine, Tohoku University School of Medicine, Sendai, Japan)

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