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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 Sanjad-Sakati syndrome ： ウィキペディア英語版 Sanjad-Sakati syndrome Sanjad-Sakati syndrome is a rare autosomal recessive genetic condition seen in offspring of Middle Eastern origin. It was first described in Saudi Arabia, but has been seen in Qatari, Kuwaiti, Omani and other children from the Middle East as well as elsewhere. The condition is caused by mutations or deletions in the TBCE gene of Chromosome No.1. The condition is characterised by a triad of growth and mental retardation, hypoparathyroidism and dysmorphism. ==Introduction== First reported from Saudi Arabia in 1988, Sanjad-Sakati syndrome, also known as ''Hypoparathyroidism-Retardation-Dysmorphism (HRD) syndrome'', or less commonly as the ''Middle East syndrome'', is a very rare genetically inherited disorder seen in the Middle East and children of Middle Eastern origin elsewhere in the world. Children born with this disorder have a clinical triad of hypoparathyroidism, physical and mental retardation and typical facies. The disorder is inherited in an autosomal recessive fashion. 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「Sanjad-Sakati 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.