title: Primary microcephaly with anterior predominant pachygyria caused by novel compound heterozygous mutations in ASPM.
authors.affiliation: Department of Pediatrics, Yamagata University Faculty of Medicine, Yamagata, Japan.
authors.forename: Kazuyuki
authors.initials: K
authors.lastname: Nakamura
authors.affiliation: Department of Pediatric Neurology, Takuto Rehabilitation Center for Children, Sendai, Japan.
authors.forename: Takehiko
authors.initials: T
authors.lastname: Inui
authors.affiliation: Laboratory for Medical Science Mathematics, Center for Integrative Medical Sciences, RIKEN, Yokohama, Japan.
authors.forename: Fuyuki
authors.initials: F
authors.lastname: Miya
authors.affiliation: 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.
authors.forename: Yonehiro
authors.initials: Y
authors.lastname: Kanemura
authors.affiliation: Department of Medical Genetics, Osaka Medical Center and Research Institute for Maternal and Child Health, Osaka, Japan.
authors.forename: Nobuhiko
authors.initials: N
authors.lastname: Okamoto
authors.affiliation: Department of Pediatrics and Neonatology, Nagoya City University Graduate School of Medical Sciences, Nagoya, Japan.
authors.forename: Shinji
authors.initials: S
authors.lastname: Saitoh
authors.affiliation: Department of Pediatric Neurosurgery, Takatsuki General Hospital, Osaka, Japan.
authors.forename: Mami
authors.initials: M
authors.lastname: Yamasaki
authors.affiliation: Laboratory for Medical Science Mathematics, Center for Integrative Medical Sciences, RIKEN, Yokohama, Japan.
authors.forename: Tatsuhiko
authors.initials: T
authors.lastname: Tsunoda
authors.affiliation: Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan.
authors.forename: Kenjiro
authors.initials: K
authors.lastname: Kosaki
authors.affiliation: Department of Pediatric Neurology, Takuto Rehabilitation Center for Children, Sendai, Japan.
authors.forename: Soichiro
authors.initials: S
authors.lastname: Tanaka
authors.affiliation: Department of Pediatrics, Yamagata University Faculty of Medicine, Yamagata, Japan. Electronic address: ktmt-hro@umin.ac.jp.
authors.forename: Mitsuhiro
authors.initials: M
authors.lastname: Kato
mesh_terms: D002648:Child; D004252:DNA Mutational Analysis; D006801:Humans; D054082:Lissencephaly / Q000150:complications* / Q000235:genetics*; D008279:Magnetic Resonance Imaging; D008297:Male; D008831:Microcephaly / Q000150:complications* / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D009419:Nerve Tissue Proteins / Q000235:genetics*
chemical_list: C467202:ASPM protein, human; D009419:Nerve Tissue Proteins