Article

Assessing Olfactory Acuity in Primary Ciliary Dyskinesia with the <em>RSPH4A </em>Founder Mutation

2025-04-03

Abstract excerpt

<h4>Background: </h4> /Objectives: Primary Ciliary Dyskinesia (PCD) is a rare genetic condition characterized by compromised mucociliary clearance and chronic respiratory manifestations. Anosmia, or the loss of smell, is a lesser-known but clinically relevant symptom that can significantly impact patient safety, nutritional status, and overall quality of life. The RSPH4A (c.921+3_921+6delAAGT) founder mutation is...

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Literature Corpus work: ddce04d6-d60f-552e-8ffb-d186490b5a87
DOI: 10.20944/preprints202504.0290.v1

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