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Sha Y, Liu W, Li L, et al. Pathogenic Variants in . Front Cell Dev Biol. 2021;9:676246doi: 10.3389/fcell.2021.676246.
Sha, Y., Liu, W., Li, L., Serafimovski, M., Isachenko, V., Li, Y., Chen, J., Zhao, B., Wang, Y., & Wei, X. (2021). Pathogenic Variants in . Frontiers in cell and developmental biology, 9676246. https://doi.org/10.3389/fcell.2021.676246
Sha, Yanwei, et al. "Pathogenic Variants in ." Frontiers in cell and developmental biology vol. 9 (2021): 676246. doi: https://doi.org/10.3389/fcell.2021.676246
Sha Y, Liu W, Li L, Serafimovski M, Isachenko V, Li Y, Chen J, Zhao B, Wang Y, Wei X. Pathogenic Variants in . Front Cell Dev Biol. 2021 Aug 06;9:676246. doi: 10.3389/fcell.2021.676246. eCollection 2021. PMID: 34422805; PMCID: PMC8377740.
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Front Cell Dev Biol. 2021 Aug 06;9:676246. doi: 10.3389/fcell.2021.676246. eCollection 2021.

Pathogenic Variants in .

Frontiers in cell and developmental biology

Yanwei Sha, Wensheng Liu, Lin Li, Mario Serafimovski, Vladimir Isachenko, Youzhu Li, Jing Chen, Bangrong Zhao, Yifeng Wang, Xiaoli Wei

Affiliations

  1. Department of Andrology, United Diagnostic and Research Center for Clinical Genetics, School of Public Health & Women and Children's Hospital, Xiamen University, Xiamen, China.
  2. Obstetrics and Gynecology Center, Department of Obstetrics and Gynecology, Zhujiang Hospital, Southern Medical University, Guangzhou, China.
  3. Research Group for Reproductive Medicine, Department of Obstetrics and Gynecology, Medical Faculty, University of Cologne, Cologne, Germany.
  4. Central Laboratory, Beijing Obstetrics and Gynecology Hospital, Capital Medical University, Beijing, China.
  5. Center for Physiology and Pathophysiology, Medical Faculty, University of Cologne, Cologne, Germany.
  6. Reproductive Medicine Center, The First Affiliated Hospital of Xiamen University, Xiamen, China.
  7. NHC Key Laboratory of Family Planning and Healthy/Key Laboratory of Reproductive Medicine of Hebei Provincial, Shijiazhuang, China.
  8. State Key Laboratory of Cellular Stress Biology, School of Pharmaceutical Sciences, Xiamen University, Xiamen, China.

PMID: 34422805 PMCID: PMC8377740 DOI: 10.3389/fcell.2021.676246

Abstract

Acephalic spermatozoa syndrome is a rare type of teratozoospermia, but its pathogenesis is largely unknown. Here, we performed whole-exome sequencing for 34 patients with acephalic spermatozoa syndrome and identified pathogenic variants in the X-linked gene,

Copyright © 2021 Sha, Liu, Li, Serafimovski, Isachenko, Li, Chen, Zhao, Wang and Wei.

Keywords: ACTRT1; acephalic spermatozoa syndrome; pathogenic variants; teratozoospermia; whole-exome sequencing

Conflict of interest statement

The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.

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