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

Autor: Nakamura K; Department of Pediatrics, Yamagata University Faculty of Medicine, Yamagata, Japan., Inui T; Department of Pediatric Neurology, Takuto Rehabilitation Center for Children, Sendai, Japan., Miya F; Laboratory for Medical Science Mathematics, Center for Integrative Medical Sciences, RIKEN, Yokohama, Japan., Kanemura Y; 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., Okamoto N; Department of Medical Genetics, Osaka Medical Center and Research Institute for Maternal and Child Health, Osaka, Japan., Saitoh S; Department of Pediatrics and Neonatology, Nagoya City University Graduate School of Medical Sciences, Nagoya, Japan., Yamasaki M; Department of Pediatric Neurosurgery, Takatsuki General Hospital, Osaka, Japan., Tsunoda T; Laboratory for Medical Science Mathematics, Center for Integrative Medical Sciences, RIKEN, Yokohama, Japan., Kosaki K; Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan., Tanaka S; Department of Pediatric Neurology, Takuto Rehabilitation Center for Children, Sendai, Japan., Kato M; Department of Pediatrics, Yamagata University Faculty of Medicine, Yamagata, Japan. Electronic address: ktmt-hro@umin.ac.jp.
Jazyk: angličtina
Zdroj: Pediatric neurology [Pediatr Neurol] 2015 May; Vol. 52 (5), pp. e7-8. Date of Electronic Publication: 2015 Feb 07.
DOI: 10.1016/j.pediatrneurol.2015.01.019
Databáze: MEDLINE