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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 Rhizomelic chondrodysplasia punctata type 1 ： ウィキペディア英語版 Rhizomelic chondrodysplasia punctata Rhizomelic chondrodysplasia punctata is a rare, developmental brain disorder characterized by systemic shortening of the proximal bones (i.e. rhizomelia), seizures, recurrent respiratory tract infections, and congenital cataracts.〔Braverman, N.E., Moser AB, Steinberg, S.J. 2010. Rhizomelic Chondrodysplasia Punctata Type 1. In: Pagon RA, Bird TC, Dolan CR, Stephens K, editors. GeneReviews (). Seattle (WA): University of Washington, Seattle; 1993-. 2001 Nov 16 (2010 Mar 02 ).〕 The affected individuals have low levels of plasmalogens. ==Types== * Type 1 (RCDP1) is associated with PEX7 mutations . These are peroxisome biogenesis disorders where proper assembly of peroxisomes is impaired. * Type 2 (RCDP2) is associated with DHAPAT mutations * Type 3 (RCDP3) is associated with AGPS mutations 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「Rhizomelic chondrodysplasia punctata」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.