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Article

Diagnosis of Primary Ciliary Dyskinesia via Whole Exome Sequencing and Histologic Findings.

Yonsei medical journal - 1 Jan 2024

Oh Jiyoung, Lee Jin-Sung, Park Moo Suk, Kang Young Ae, Cho Hyung-Ju, Kim Song Yee, Jung Jinsei, Yoon Sun Och, Kim Kyung Won

Abstract excerpt

PURPOSE: To assess the diagnostic potential of whole-exome sequencing (WES) and elucidate the clinical and genetic characteristics of primary ciliary dyskinesia (PCD) in the Korean population. MATERIALS AND METHODS: Forty-seven patients clinically suspected of having PCD were enrolled at a tertiary medical center. WES was performed in all patients, and seven patients received biopsy of cilia and transmission...

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Identifiers

PMID: 38154480
DOI: 10.3349/ymj.2023.0238
PMCID: PMC10774650

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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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