The 59th Annual Meeting of the Japanese Society of Child Neurology

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English Session

genetic abnormality

[E5] English Session 5
genetic disorder

Fri. Jun 16, 2017 8:50 AM - 9:50 AM Room No.6 (10F Conference Room 1009)

Chair:Yoshiko Nomura（Yoshiko Nomura Neurological Clinic for Children, Tokyo, Japan）, Toshiyuki Yamamoto（Institute of Medical Genetics, Tokyo Women’s Medical University, Tokyo, Japan）

[E-035] Germline MTOR mutation in a boy with Smith—Kingsmore syndrome showing hepatomegaly and hypoglycemia

○Akira Hojo1, Yoshifusa Abe1, Masaru Tatsuno1, Tamae Kugai2, Koichi Mizuguchi2, Masaya Kubota3, Mitsuko Nakashima4, Naomichi Matsumoto4, Mitsuhiro Kato1 (1.Department of Pediatrics, Showa University School of Medicine, Tokyo, Japan, 2.Division of General Pediatrics and Interdisciplinary Medicine, National Center for Child Health and Development, Tokyo, Japan, 3.Division of Neurology, National Center for Child Health and Development, Tokyo, Japan, 4.Department of Human Genetics, Yokohama City University Graduate School of Medicine)

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