Identification of an RSPH4A Founder Variant and Newborn Screening for Primary Ciliary Dyskinesia
Sign Up to like & getrecommendations! Published in 2025 at "JAMA Network Open"
DOI: 10.1001/jamanetworkopen.2025.30551
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). read more here.
Keywords: newborn screening; ciliary dyskinesia; rsph4a; screening primary ... See more keywords
Novel RSPH4A Variants Associated With Primary Ciliary Dyskinesia–Related Infertility in Three Chinese Families
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Genetics"
DOI: 10.3389/fgene.2022.922287
Abstract: Background: The radial spoke head component 4A (RSPH4A) is involved in the assembly of radial spokes, which is essential for motile cilia function. Asthenoteratozoospermia in primary ciliary dyskinesia (PCD) related to RSPH4A variants has not… read more here.
Keywords: primary ciliary; rsph4a variants; chinese families; ciliary dyskinesia ... See more keywords