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The Genetics of Primary Ciliary Dyskinesia in Puerto Rico

2 May 2022

Abstract excerpt

Primary ciliary dyskinesia (PCD) has been linked to more than 50 genes that cause a spectrum of clinical symptoms, including newborn respiratory distress, sinopulmonary infections, and laterality abnormalities. Although the RSPH4A (c.921+3_6delAAGT) pathogenic variant has been related to Hispanic groups with Puerto Rican ancestry, it is uncertain how frequently other PCD-implicated genes are present on the...

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PMID: 35626283
DOI: 10.3390/diagnostics12051127

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