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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 GAPO syndrome ： ウィキペディア英語版 GAPO syndrome GAPO syndrome is a rare, autosomal recessive genetic disorder. GAPO is an acronym for growth retardation, alopecia, pseudoanodontia (failure of tooth eruption), and progressive optic atrophy. == Genetics == GAPO syndrome is inherited in an autosomal recessive manner.〔 This means the defective gene responsible for the disorder is located on an autosome, and two copies of the defective gene (one inherited from each parent) are required in order to be born with the disorder. The parents of an individual with an autosomal recessive disorder both carry one copy of the defective gene, but usually do not experience any signs or symptoms of the disorder. Homozygous nonsense mutations and splice site mutations occurring in the ANTXR1 gene have been identified as sources of the condition.〔Stránecký V, Hoischen A, Hartmannová H, et al. Mutations in ANTXR1 Cause GAPO Syndrome. American Journal of Human Genetics. 2013;92(5):792-799. doi:10.1016/j.ajhg.2013.03.023.〕 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「GAPO 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.