Homozygous mutations in DZIP1 can induce asthenoteratospermia with severe MMAF

BACKGROUND: Asthenoteratospermia, one of the most common causes for male infertility, often presents with defective sperm heads and/or flagella. Multiple morphological abnormalities of the sperm flagella (MMAF) is one of the common clinical manifestations of asthenoteratospermia. Variants in several...

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Shranjeno v:
Bibliografske podrobnosti
izdano v:J Med Genet
Main Authors: Lv, Mingrong, Liu, Wangjie, Chi, Wangfei, Ni, Xiaoqing, Wang, Jiajia, Cheng, Huiru, Li, Wei-Yu, Yang, Shenmin, Wu, Huan, Zhang, Junqiang, Gao, Yang, Liu, Chunyu, Li, Caihua, Yang, Chenyu, Tan, Qing, Tang, Dongdong, Zhang, Jingjing, Song, Bing, Chen, Yu-Jie, Li, Qiang, Zhong, Yading, Zhang, Zhihua, Saiyin, Hexige, Jin, Li, Xu, Yuping, Zhou, Ping, Wei, Zhaolian, Zhang, Chuanmao, He, Xiaojin, Zhang, Feng, Cao, Yunxia
Format: Artigo
Jezik:Inglês
Izdano: BMJ Publishing Group 2020
Teme:
Genotype-Phenotype Correlations
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC7361034/
https://ncbi.nlm.nih.gov/pubmed/32051257
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmedgenet-2019-106479
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