Identification of an RSPH4A Founder Variant and Newborn Screening for Primary Ciliary Dyskinesia

Authors

• Wilfredo De Jesús-Rojas
• Katherine P Guerra-Torres
• Alondra J Rosado-Ayala
• Edwin L Acevedo-Soto
• Marcos J Ramos-Benitez
• Ricardo A Mosquera

Language

English

Publication Date

9-2-2025

Journal

JAMA Network Open

DOI

10.1001/jamanetworkopen.2025.30551

PMID

40911311

PMCID

PMC12413642

PubMedCentral® Posted Date

9-5-2025

PubMedCentral® Full Text Version

Post-print

Abstract

This cross-sectional study estimates the prevalence of an RSPH4A variant identified in Puerto Rico in an effort to evaluate the feasibility of targeted newborn screening for primary ciliary dyskinesia (PCD).

Published Open-Access

yes

Recommended Citation

De Jesús-Rojas, Wilfredo; Guerra-Torres, Katherine P; Rosado-Ayala, Alondra J; et al., "Identification of an RSPH4A Founder Variant and Newborn Screening for Primary Ciliary Dyskinesia" (2025). Faculty, Staff and Student Publications. 4233.
https://digitalcommons.library.tmc.edu/uthmed_docs/4233