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Article

A nonsense variant in NME5 causes human primary ciliary dyskinesia with radial spoke defects.

Clinical genetics - 1 Jul 2020

Cho Eun Hye, Huh Hee Jae, Jeong Inyoung, Lee Nam Yong, Koh Won-Jung, Park Hae-Chul, Ki Chang-Seok

Abstract excerpt

Primary ciliary dyskinesia (PCD) is a genetically heterogeneous disorder characterized by defects in the function or structure of motitle cilia. In most cases, causative variants result in axonemal dynein arm anomalies, however, PCD due to radial spoke (RS) and central pair (CP) of microtubules has been rarely reported. To identify the molecular basis of PCD characterized by RS/CP defects, we performed whole...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 32185794
DOI: 10.1111/cge.13742

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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