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Biallelic variant in cyclin B3 is associated with failure of maternal meiosis II and recurrent digynic triploidy

16 Sept 2020

Abstract excerpt

Background Triploidy is one of the most common chromosome abnormalities affecting human gestation and accounts for an important fraction of first-trimester miscarriages. Triploidy has been demonstrated in a few cases of recurrent pregnancy loss (RPL) but its molecular mechanisms are unknown. This study aims to identify the genetic cause of RPL associated with fetus triploidy. Methods We investigated genomic...

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PMID: 32938693
DOI: 10.1136/jmedgenet-2020-106909

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