Novel homozygous mutations in PATL2 lead to female infertility with oocyte maturation arrest
Zhenxing Liu, Lixia Zhu, Jiarui Wang, Geng Luo, Qingsong Xi, Xiaopei Zhou, Li Zhou, Xue Yang, Jinliang Duan, Lei Jin, Xianqin Zhang
Topics & Concepts
Missense mutationSanger sequencingBiologyOocyteGeneticsExome sequencingInfertilityPhenotypeMutationAndrologyGeneMedicineEmbryoPregnancyReproductive Biology and FertilityReproductive System and PregnancyGenetic Syndromes and Imprinting