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[Clinical characteristics and genetic analysis of a patient with Acephalic spermatozoa syndrome due to variant of PMFBP1 gene].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Jun 2024

Feng Ke, Xia Yanqing, Qu Xiaowei, Wan Feng, Yang Ke, Xu Jianing, Zhang Cuilian, Guo Haibin

Abstract excerpt

OBJECTIVE: To analyze the clinical characteristics and genetic basis of a male patient with primary infertility caused by Acephalic spermatozoa syndrome. METHODS: A patient who had presented at the Henan Provincial People's Hospital on October 1, 2022 was selected as the study subject. Clinical data and results of laboratory exams and sperm electron microscopy were collected. The patient was subjected to whole...

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PMID: 38818563
DOI: 10.3760/cma.j.cn511374-20220323-00199

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