A loss-of-function variant in SSFA2 causes male infertility with globozoospermia and failed oocyte activation

A loss-of-function variant in SSFA2 causes male infertility with globozoospermia and failed oocyte activation

Globozoospermia (OMIM: 102530) is a rare type of teratozoospermia (< 0.1%). The etiology of globozoospermia is complicated and has not been fully revealed. Here, we report an infertile patient with globozoospermia. Variational analysis revealed a homozygous missense variant in the SSFA2 gene (NM_...

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Bibliographic Details
Main Authors: Huang, Gelin, Zhang, Xueguang, Yao, Guanping, Huang, Lin, Wu, Sixian, Li, Xiaoliang, Guo, Juncen, Wen, Yuting, Wang, Yan, Shang, Lijun, Li, Na, Xu, Wenming
Format: Article
Language:English
Published: BioMed Central (BMC) 2022
Subjects:
570 Life sciences; biology
Online Access:https://repository.londonmet.ac.uk/7818/1/s12958-022-00976-5.pdf

Internet

https://repository.londonmet.ac.uk/7818/1/s12958-022-00976-5.pdf

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