Pathogenic Variants in ACTRT1 Cause Acephalic Spermatozoa Syndrome

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, ACTRT1, in two patients. Sanger sequencin...

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Detalles Bibliográficos
Autores principales: Sha, Yanwei, Liu, Wensheng, Li, Lin, Serafimovski, Mario, Isachenko, Vladimir, Li, Youzhu, Chen, Jing, Zhao, Bangrong, Wang, Yifeng, Wei, Xiaoli
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Cell and Developmental Biology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8377740/
https://www.ncbi.nlm.nih.gov/pubmed/34422805
http://dx.doi.org/10.3389/fcell.2021.676246

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