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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 De Sanctis-Cacchione syndrome ： ウィキペディア英語版 DeSanctis–Cacchione syndrome DeSanctis–Cacchione syndrome is an extremely rare disorder characterized by the skin and eye symptoms of xeroderma pigmentosum (XP) occurring in association with microcephaly, progressive mental retardation, retarded growth and sexual development, deafness, choreoathetosis, ataxia and quadriparesis. ==Genetics== In at least some case, the gene lesion involves a mutation in the ''CSB'' gene.〔http://hmg.oxfordjournals.org/cgi/content/full/9/8/1171?view=long&pmid=10767341〕 It can be associated with ''ERCC6''. 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「DeSanctis–Cacchione 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.