A combination of genetic and biochemical analyses for the diagnosis of PI3K-AKT-mTOR pathway-associated megalencephaly
Yutaka Negishi(CE Technologies (United Kingdom)), Shinji Saitoh(Nagoya City University), Takao Togawa(Nagoya City University), Yonehiro Kanemura(National Institute of Biomedical Innovation, Health and Nutrition), Shinobu Fukumura(Sapporo Medical University), Kei Ohashi(Nagoya City University), Yoshikazu Johmura(Kanazawa University), N Ando(Tokyo Dental College Ichikawa General Hospital), Makoto Nakanishi(The Cancer Institute Hospital), Yoko Kishimoto(Tobu Ryoiku Center), Motoo Nakagawa(Nagoya City University), Mitsuhiro Kato(Showa University), Tatsuhiko Tsunoda(University of California San Diego), Fuyuki Miya(Keio University), Kohei Aoyama(Nagoya City University), Ikumi Hori(Nagoya City University), Seiji Mizuno(Aichi Human Service Center), Kenjiro Kosaki(Keio University), Ayako Umemura(Aichi Human Service Center), Mami Yamasaki(Takatsuki General Hospital), Ayako Hattori(Nagoya City University), Nobuhiko Okamoto(Osaka Women's and Children's Hospital)
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