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X-linked RBBP7 mutation causes maturation arrest and testicular tumors

Maturation arrest (MA) is a subtype of non-obstructive azoospermia, and male infertility is a known risk factor for testicular tumors. However, the genetic basis for many affected individuals remains unknown. Here, we identified a deleterious hemizygous variant of X-linked retinoblastoma-binding pro...

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Detalles Bibliográficos
Autores principales: Li, Jingping, Zheng, Huimei, Hou, Jiaru, Chen, Jianhua, Zhang, Fengbin, Yang, Xiaohang, Jin, Fan, Xi, Yongmei
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Society for Clinical Investigation 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10575721/
https://www.ncbi.nlm.nih.gov/pubmed/37843278
http://dx.doi.org/10.1172/JCI171541