Identification of an <i>RSPH4A</i> Founder Variant and Newborn Screening for Primary Ciliary Dyskinesia
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).
Authors
- W. De Jesus-Rojas (ORCID: https://orcid.org/0000-0002-6133-3517)
- Marcos Javier Ramos-Benítez (ORCID: https://orcid.org/0000-0001-9445-3294)
- Ricardo A. Mosquera (ORCID: https://orcid.org/0000-0002-5350-331X)
- Alondra J. Rosado-Ayala
- Katherine P. Guerra-Torres
- Edwin L. Acevedo-Soto
Institutions
- Ponce Health Sciences University (PR)
Publication Details
- Journal
- JAMA Network Open
- Published
- 2025-09-05
- DOI
- https://doi.org/10.1001/jamanetworkopen.2025.30551
- Primary Topic
- Cystic Fibrosis Research Advances
- Type
- article
- Field-Weighted Citation Impact
- 0.00