Primary microcephaly with anterior predominant pachygyria caused by novel compound heterozygous mutations in ASPM

Affiliations

• ¹ Department of Pediatrics, Yamagata University Faculty of Medicine, Yamagata, Japan.
• ² Department of Pediatric Neurology, Takuto Rehabilitation Center for Children, Sendai, Japan.
• ³ Laboratory for Medical Science Mathematics, Center for Integrative Medical Sciences, RIKEN, Yokohama, Japan.
• ⁴ Division of Regenerative Medicine, Institute for Clinical Research, Osaka National Hospital, National Hospital Organization, Osaka, Japan; Department of Neurosurgery, Osaka National Hospital, National Hospital Organization, Osaka, Japan.
• ⁵ Department of Medical Genetics, Osaka Medical Center and Research Institute for Maternal and Child Health, Osaka, Japan.
• ⁶ Department of Pediatrics and Neonatology, Nagoya City University Graduate School of Medical Sciences, Nagoya, Japan.
• ⁷ Department of Pediatric Neurosurgery, Takatsuki General Hospital, Osaka, Japan.
• ⁸ Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan.
• ⁹ Department of Pediatrics, Yamagata University Faculty of Medicine, Yamagata, Japan. Electronic address: ktmt-hro@umin.ac.jp.