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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 Rosselli–Gulienetti syndrome ： ウィキペディア英語版 Rosselli–Gulienetti syndrome Rosselli–Gulienetti syndrome, also known as Zlotogora–Ogur syndrome〔(ORPHANET - About rare diseases - About orphan drugs )〕 and Bowen–Armstrong syndrome,〔(Bowen-Armstrong Syndrome )〕 is a type of congenital ectodermal dysplasia syndrome. The syndrome is relatively rare and has only been described in a few cases. ==Signs and symptoms== There is a range of signs and symptoms including cleft lip or palate, mental retardation and various forms of ectodermal dysplasia. Additional symptoms may include fused eyelids, absent nails, delayed bone growth and dry skin. It is believed that this syndrome follows an autosomal dominant pattern of inheritance with incomplete penetrance,〔 and caused by a mutation affecting the TP63 gene. It has been suggested that this syndrome, AEC syndrome and Rapp–Hodgkin syndrome may be variations of the same disease. 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「Rosselli–Gulienetti 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.