A novel homozygous frameshift variant in DNAH8 causes multiple morphological abnormalities of the sperm flagella in a consanguineous Pakistani family

por Dil, Sobia, Khan, Asad, Unar, Ahsanullah, Yang, Meng-Lei, Ali, Imtiaz, Zeb, Aurang, Zhang, Huan, Zhou, Jian-Teng, Zubair, Muhammad, Khan, Khalid, Bai, Shun, Shi, Qing-Hua
Publicado 2022

Novel biallelic loss-of-function mutations in CFAP43 cause multiple morphological abnormalities of the sperm flagellum in Pakistani families

por Khan, Ihsan, Shah, Basit, Dil, Sobia, Ullah, Nadeem, Zhou, Jian-Teng, Zhao, Da-Ren, Zhang, Yuan-Wei, Jiang, Xiao-Hua, Khan, Ranjha, Khan, Asad, Ali, Haider, Zubair, Muhammad, Shah, Wasim, Zhang, Huan, Shi, Qing-Hua
Publicado 2021

A recurrent homozygous missense mutation in CCDC103 causes asthenoteratozoospermia due to disorganized dynein arms

por Zubair, Muhammad, Khan, Ranjha, Ma, Ao, Hameed, Uzma, Khan, Mazhar, Abbas, Tanveer, Ahmad, Riaz, Zhou, Jian-Teng, Shah, Wasim, Hussain, Ansar, Ahmed, Nisar, Khan, Ihsan, Khan, Khalid, Zhang, Yuan-Wei, Zhang, Huan, Wu, Li-Min, Shi, Qing-Hua
Publicado 2022