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Article

Novel PATL2 variants cause female infertility with oocyte maturation defect.

Journal of assisted reproduction and genetics - 1 Aug 2024

Hu Hua-Ying, Zhang Ge-Han, Deng Wei-Fen, Wei Tian-Ying, Feng Zhan-Ke, Li Cun-Xi, Li Song Jun, Liu Jia-En, Tian Ya-Ping

Abstract excerpt

PURPOSE: Oocyte maturation defect (OOMD) is a rare cause of in vitro fertilization failure characterized by the production of immature oocytes. Compound heterozygous or homozygous PATL2 mutations have been associated with oocyte arrest at the germinal vesicle (GV), metaphase I (MI), and metaphase II (MII) stages, as well as morphological changes. METHODS: In this study, we recruited three OOMD cases and conducted...

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Identifiers

PMID: 38954294
DOI: 10.1007/s10815-024-03150-5
PMCID: PMC11339215

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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