Early‐onset epileptic encephalopathy and severe developmental delay in an association with de novo double mutations in NF1 and MAGEL2
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Takahiro A. Kato | C. Shaw | A. Hiwatashi | O. Togao | S. Kanba | T. Hara | A. Sawa | N. Matsumoto | M. Furue | M. Sanefuji | Y. Sakai | S. Ohga | H. Saitsu | T. Nakahara | H. Torisu | Y. Ishizaki | S. Akamine | N. Sagata | Yuki Matsushita | S. Kano | Hiroyuki Torisu | Masafumi Sanefuji