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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 Madelung's deformity ： ウィキペディア英語版 Madelung's deformity Madelung's deformity is usually characterized by malformed wrists and wrist bones, accompanied by short stature and is often associated with Léri-Weill dyschondrosteosis. It has only been recognized within the past hundred years. ==Genetics== Leri-Weill dyschondrosteosis is a pseudoautosomal dominant disorder which occurs more frequently in females and is due to a mutation, deletion or duplication of the SHOX gene. The SHOX gene plays a particularly important role in the growth and maturation of bones in the arms and legs. The SHOX gene is located within band Xp22.3 of the pseudoautosomal region of the X chromosome, which escapes X-inactivation. Homozygous SHOX gene mutations result in Langer mesomelic dysplasia. 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「Madelung's deformity」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.