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M. Ramos-Benitez

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Open access Oct 2026

Genotype–Computed Tomography Phenotype of the RSPH4A Founder Variant in Primary Ciliary Dyskinesia

Background/Objectives: Primary ciliary dyskinesia (PCD) caused by biallelic RSPH4A variants is enriched in the Puerto Rican population due to the founder allele c.921+3_921+6delAAGT, a 4-nucleotide deletion affecting the intron 6 splice donor. This study aimed to characterize the genotype–computed tomography (CT) pheno...

Josué E. Pabón Maldonado, G. Rosario-Ortiz, M. Ramos-Benitez et al. · 0 citations

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