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

PURPOSE: Kartagener 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 DNAH...

詳細記述

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書誌詳細
出版年:J Assist Reprod Genet
主要な著者: Xu, Xuan, Gong, Ping, Wen, Jie
フォーマット: Artigo
言語:Inglês
出版事項: Springer US 2016
主題:
オンライン・アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC5306412/
https://ncbi.nlm.nih.gov/pubmed/27988889
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s10815-016-0849-3
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