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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Detalles Bibliográficos
Autores principales: Huang, Gelin, Zhang, Xueguang, Yao, Guanping, Huang, Lin, Wu, Sixian, Li, Xiaoliang, Guo, Juncen, Wen, Yuting, Wang, Yan, Shang, Lijun, Li, Na, Xu, Wenming
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Correspondence
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9281110/
https://www.ncbi.nlm.nih.gov/pubmed/35836265
http://dx.doi.org/10.1186/s12958-022-00976-5

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9281110/
https://www.ncbi.nlm.nih.gov/pubmed/35836265
http://dx.doi.org/10.1186/s12958-022-00976-5

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