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Article

DRC1 deficiency caused primary ciliary dyskinesia and MMAF in a Chinese patient.

Journal of human genetics - 1 Apr 2022

Lei Cheng, Yang Danhui, Wang Rongchun, Ding Shuizi, Wang Lin, Guo Ting, Luo Hong

Abstract excerpt

OBJECTIVE: Primary ciliary dyskinesia (PCD) is a heterogeneous disease characterized by the failure of mucociliary clearance. Dynein regulatory complex subunit 1 (DRC1) variants can cause PCD by disrupting the nexin link connecting the outer doublets. In this study, we aimed to investigate the clinical and functional impacts of DRC1 variants on respiratory cilia and sperm. METHODS: We identified and validated the...

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PMID: 34815526
DOI: 10.1038/s10038-021-00985-z

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