Article

Pathogenic variants identified using whole-exome sequencing in Chinese patients with primary ciliary dyskinesia

2021-03-02

Abstract excerpt

<title>Abstract</title> <p>Background Primary ciliary dyskinesia (PCD) is an autosomal recessive disorder. The genetic factors contributing to PCD pathogenesis remain elusive for approximately 20–35% of patients with complex and abnormal clinical phenotypes. Our study aimed to identify causative variants of sporadic PCD genes using whole-exome sequencing (WES). Result All patients were diagnosed with PCD based...

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Literature Corpus work: 907706cc-59b5-5d03-a3a0-94a0588fd559
DOI: 10.21203/rs.3.rs-156279/v2

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