Novel SPEF2 variants cause male infertility and likely primary ciliary dyskinesia

ConclusionOur study reported four novel pathogenic variants ofSPEF2 in three male patients with infertility and PCD/PCD-like phenotypes, which not only extend the spectrum ofSPEF2 mutations but also provide information for genetic counseling and treatment of such conditions.

http://link.springer.com/10.1007/s10815-024-03106-9

Source: Journal of Assisted Reproduction and Genetics - April 3, 2024 Category: Reproduction Medicine Source Type: research