A novel 22q11.2 microdeletion in DiGeorge syndrome.
作者信息
Rauch A, Pfeiffer R A, Leipold G, Singer H, Tigges M, Hofbeck M
出版信息
Am J Hum Genet. 1999 Feb;64(2):659-66. doi: 10.1086/302235.
Abstract
摘要
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A novel 22q11.2 microdeletion in DiGeorge syndrome.DiGeorge综合征中的一种新型22q11.2微缺失。
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Idiopathic thrombocytopenic purpura in two mothers of children with DiGeorge sequence: a new component manifestation of deletion 22q11?两名患有DiGeorge序列综合征患儿的母亲患特发性血小板减少性紫癜：22q11缺失的一种新的组成部分表现？
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Interstitial deletion of 22q11 in DiGeorge syndrome detected by high resolution and molecular analysis.通过高分辨率和分子分析检测到DiGeorge综合征中22q11的间质缺失。
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DiGeorge syndrome with discordant phenotype in monozygotic twins.单卵双胞胎中具有不一致表型的迪乔治综合征。
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Phenotypic discordance in monozygotic twins with 22q11.2 deletion.患有22q11.2缺失的单卵双胞胎的表型不一致。
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