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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 Yemenite deaf-blind hypopigmentation syndrome ： ウィキペディア英語版 Yemenite deaf-blind hypopigmentation syndrome The genetic disorder Yemenite deaf-blind hypopigmentation syndrome, also known as Warburg-Thomsen syndrome,〔 is a condition caused by a mutation on the SRY-related HMG-box gene 10 (not SOX10). It was characterized in 1990, after being seen in two siblings from Yemen who presented with a "hitherto undescribed association of microcornea, colobomata of the iris and choroidea, nystagmus, severe early hearing loss, and patchy hypo- and hyperpigmentation." Some sources affirm ''SOX10'' involvement. == See also == * ABCD syndrome * List of cutaneous conditions 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「Yemenite deaf-blind hypopigmentation 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.