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Advancing Primary Ciliary Dyskinesia Diagnosis in Puerto Rico through High-Speed Video Microscopy Analysis

2024-02-19

Abstract excerpt

Primary ciliary dyskinesia (PCD) is an inherited disorder that impairs motile cilia, essential for respiratory health, with a reported prevalence of 1 in 16,309 within Hispanic populations. Despite having the RSPH4A [c.921+3_921+6del (intronic)] founder mutation in 70% of Puerto Rican patients, the characterization of the ciliary dysfunction remains unidentified due to the unavailability of advanced diagnostic mod...

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Literature Corpus work
a3ed43c4-feea-5a03-9621-3a24bf4a54db
DOI
10.20944/preprints202402.1020.v1
Open publication

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Advancing Primary Ciliary Dyskinesia Diagnosis in Puerto Rico through High-Speed Video Microscopy AnalysisDOI 10.20944/preprints202402.1020.v1
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