翻訳と辞書 |
VLDLR-associated cerebellar hypoplasia : ウィキペディア英語版 | VLDLR-associated cerebellar hypoplasia
VLDLR-associated cerebellar hypoplasia (VLDLRCH; alternative names: dysequilibrium syndrome, DES; nonprogressive cerebellar disorder with mental retardation) is a rare autosomal recessive condition caused by a disruption of the VLDLR gene. First described as a form of cerebral palsy in the 1970s,〔Sanner, G. The dysequilibrium syndrome: a genetic study. Neuropaediatrie 4: 403-413, 1973〕 it is associated with parental consanguinity and is found in secluded communities, with a number of cases described in Hutterite families. == 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「VLDLR-associated cerebellar hypoplasia」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.
|
|