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Novel mutations in TUBB8 expand the mutational and phenotypic spectrum of patients with zygotes containing multiple pronuclei.

Gene - 15 Feb 2021

Sha Qianqian, Zheng Wei, Feng Xie, Yuan Ruiying, Hu Huiling, Gong Fei, Hu Liang, Lin Ge, Ou Xianghong

Abstract excerpt

After fertilization, parental chromosomes decondense and form pronuclei. During these processes, germ cell genomes merge and give rise to the zygotic genome. Multiple pronuclei (MPN) formation is usually caused by polyspermic fertilization or oocyte-derived meiotic failure, and account for 15-18% of cytogenetically abnormal cases among spontaneous abortions. However, pathogenic gene mutations responsible for...

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Cell Nucleus
Fertilization
Infertility, Female
Mutation
Phenotype

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 33059025
DOI: 10.1016/j.gene.2020.145227

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