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Copy number variation in DRC1 is the major cause of primary ciliary dyskinesia in the Japanese population

20 Jan 2020

Abstract excerpt

BACKGROUND: Primary ciliary dyskinesia (PCD) is a rare genetic disorder caused by functional impairment of cilia throughout the body. The involvement of copy number variation (CNV) in the development of PCD is largely unknown. METHODS: We examined 93 Japanese patients with clinically suspected PCD from 84 unrelated families. CNV was examined either by exome sequencing of a PCD gene panel or by whole-exome...

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PMID: 31960620
DOI: 10.1002/mgg3.1137

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