Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical geneticsFemaleHumansYoung AdultExome SequencingInfertility
[Clinical phenotype and genetic analysis of a patient with Oocyte maturation defect due to a novel variant of PATL2 gene].
Fangzhu Wang, Yali Ni, Lin Zhang, Bo Yan, Jinwei Yang, Chuan Zhang, Zhiqiang Wang
Published: 202510.3760/cma.j.cn511374-20250121-00043
Abstract
OBJECTIVE: To investigate the clinical phenotype and genetic etiology of a patient with primary infertility accompanied by Oocyte maturation defect (OOMD). METHODS: A 24-year-old female patient who visited the Reproductive Medicine Center of Gansu Pr…
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