Whole exome sequencing enhances diagnosis of hereditary bronchiectasis

Whole exome sequencing enhances diagnosis of hereditary bronchiectasis

Abstract Background Hereditary bronchiectasis refers to a subset of bronchiectasis related to genetic mutations, presenting with common clinical features. Historically, diagnosing this condition has been difficult due to the inaccessibility of diagnostic services coupled with a lack of awareness of...

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Bibliographic Details
Main Authors: Wangji Zhou, Yixuan Li, Haixia Zheng, Miao He, Miaoyan Zhang, Qiaoling Chen, Christopher Situ, Yaqi Wang, Ting Zhang, Keqi Chen, Jinrong Dai, Shuzhen Meng, Xueqi Liu, Aohua Wu, Yaping Liu, Kai-Feng Xu, Xinlun Tian, Xue Zhang
Format: Article
Language:English
Published: BMC 2025-03-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Hereditary bronchiectasis
Whole exome sequencing
Diagnosis
Re-analysis
Online Access:https://doi.org/10.1186/s13023-025-03661-z
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