Article
Novel mutations in SPEF2 causing different defects between flagella and cilia bridge: the phenotypic link between MMAF and PCD.
Human genetics - 1 Feb 2020
Tu Chaofeng, Nie Hongchuan, Meng Lanlan, Wang Weili, Li Haiyu, Yuan Shimin, Cheng Dehua, He Wenbin, Liu Gang, Du Juan, Gong Fei, Lu Guangxiu, Lin Ge, Zhang Qianjun, Tan Yue-Qiu
Abstract excerpt
Severe asthenozoospermia is a common cause of male infertility. Recent studies have revealed that SPEF2 mutations lead to multiple morphological abnormalities of the sperm flagella (MMAF) without primary ciliary dyskinesia (PCD) symptoms in males, but PCD phenotype was also found in one female individual. Therefore, whether there is a phenotypic continuum ranging from infertile patients with PCD to MMAF patients...
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