A homozygous KASH5 frameshift mutation causes diminished ovarian reserve, recurrent miscarriage, and non-obstructive azoospermia in humans

The meiosis-specific LINC complex, composed of the KASH5 and SUN1 proteins, tethers the moving chromosomes to the nuclear envelope to facilitate homolog pairing and is essential for gametogenesis. Here, we applied whole-exome sequencing for a consanguineous family with five siblings suffering from r...

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Detalles Bibliográficos
Autores principales: Hou, Xiaoning, Zeb, Aurang, Dil, Sobia, Zhou, Jianteng, Zhang, Huan, Shi, Baolu, Muhammad, Zubair, Khan, Ihsan, Zaman, Qamar, Shah, Wasim Akbar, Jiang, Xiaohua, Wu, Limin, Ma, Hui, Shi, Qinghua
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Endocrinology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9971600/
https://www.ncbi.nlm.nih.gov/pubmed/36864840
http://dx.doi.org/10.3389/fendo.2023.1128362

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9971600/
https://www.ncbi.nlm.nih.gov/pubmed/36864840
http://dx.doi.org/10.3389/fendo.2023.1128362

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