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翻訳と辞書　辞書検索 [ 開発暫定版 ] スポンサード リンク Norman–Roberts syndrome ： ウィキペディア英語版 Norman–Roberts syndrome Lissencephaly 2, more commonly called Norman–Roberts syndrome, is a rare form of lissencephaly caused by a mutation in the reelin gene. A small number of cases have been described. The syndrome was first reported by M. Norman and M. Roberts et al. in 1976. Lack of reelin prevents normal layering of the cerebral cortex and disrupts cognitive development. Patients have cerebellar hypoplasia and suffer from congenital lymphedema and hypotonia. The disorder is also associated with myopia, nystagmus and generalized seizures. Norman–Roberts syndrome is one of two known disorders caused by a disruption of the reelin-signaling pathway. The other is VLDLR-associated cerebellar hypoplasia, which is caused by a mutation in the gene coding for one of the reelin receptors, VLDLR. Disruption of the RELN gene in human patients is analogous to the malfunctioning RELN gene in the reeler mouse. ==References== 抄文引用元・出典: フリー百科事典『 ウィキペディア（Wikipedia）』 ■ウィキペディアで「Norman–Roberts syndrome」の詳細全文を読む スポンサード リンク 翻訳と辞書 : 翻訳のためのインターネットリソース Copyright(C) kotoba.ne.jp 1997-2016. All Rights Reserved.