Clinical and genetic analysis of a family with Kartagener syndrome caused by novel DNAH5 mutations

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• 作者：Xuan Xu ; Ping Gong ; Jie Wen
• 关键词：Kartagener syndrome ; DNAH5 ; Gene sequencing ; Visceral inversion ; Mutation ; Precision medicine
• 刊名：Journal of Assisted Reproduction and Genetics
• 出版年：2017
• 出版时间：February 2017
• 年：2017
• 卷：34
• 期：2
• 页码：275-281
• 全文大小：
• 刊物类别：Medicine
• 刊物主题：Gynecology; Reproductive Medicine; Human Genetics;
• 出版者：Springer US
• ISSN：1573-7330
• 卷排序：34

文摘

PurposeKartagener syndrome (KS), also known as visceral inversion-nasosinusitis-bronchiectasis syndrome, or familial bronchiectasis, is an autosomal recessive inherited disease. In this study, through two cases of KS, we aimed to assess the clinical and genetic characteristics of KS caused by DNAH5 mutations.