Novel biallelic PATL2 variants causing predominant germinal vesicle arrest and recurrent ART failure: expanded mutational spectrum and evidence-based reproductive counseling guidance.

Xin-Jie Zhuang Yue Li Xin Qiu Jin-Liang Zhu Ming Li X. Zhi Rong Li Ping Liu

Aug 2026 · Journal of Assisted Reproduction and Genetics · 0 citations · 28 references

Medicine

TL;DR

Biallelic pathogenic PATL2 variants constitute a major monogenic driver of refractory GV-predominant OOMD and complete recurrent ART failure and substantially expands the global spectrum of disease-causing PATL2 variants.

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