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Article

Novel SPEF2 variants cause male infertility and likely primary ciliary dyskinesia.

Journal of assisted reproduction and genetics - 1 Jun 2024

Lu Wenqing, Li Yong, Meng Lanlan, Tan Chen, Nie Hongchuan, Zhang Qianjun, Song Yuying, Zhang Huan, Tan Yue-Qiu, Tu Chaofeng, Guo Haichun, Wu Longxiang, Du Juan

Abstract excerpt

PURPOSE: This study aimed to identify the genetic causes of male infertility and primary ciliary dyskinesia (PCD)/PCD-like phenotypes in three unrelated Han Chinese families. METHODS: We conducted whole-exome sequencing of three patients with male infertility and PCD/PCD-like phenotypes from three unrelated Chinese families. Ultrastructural and immunostaining analyses of patient spermatozoa and respiratory cilia...

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Identifiers

PMID: 38568462
DOI: 10.1007/s10815-024-03106-9
PMCID: PMC11224184

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