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Whole exome sequencing in unexplained recurrent miscarriage families identified novel pathogenic genetic causes of euploid miscarriage.

Human reproduction (Oxford, England) - 2 May 2023

Wang Xiyao, Shi Wenqiang, Zhao Shaotong, Gong Deshun, Li Shuo, Hu Cuiping, Chen Zi-Jiang, Li Yan, Yan Junhao

Abstract excerpt

STUDY QUESTION: Can whole exome sequencing (WES) followed by trio bioinformatics analysis identify novel pathogenic genetic causes of first trimester euploid miscarriage? SUMMARY ANSWER: We identified genetic variants in six candidate genes that indicated plausible underlying causes of first-trimester euploid miscarriage. WHAT IS KNOWN ALREADY: Previous studies have identified several monogenic causes of...

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Identifiers

PMID: 36864708
DOI: 10.1093/humrep/dead039
PMCID: PMC10152170

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Source receipt: pubmed, retrieved 7 Sept 2026.

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