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A complex heterozygous mutation in PADI6 causes early embryo arrest: A case report
Ting Zhang1, Peng Liu1, Guanfeng Yao1
1Hebei Key Laboratory of Reproductive Medicine, Department of Reproductive Medicine, Hebei Reproductive Hospital, Shijiazhuang, China.
Frontiers in Genetics
|January 27, 2023
Summary
A novel complex heterozygous mutation in the PADI6 gene caused early embryo arrest in a patient undergoing in vitro fertilization. This finding highlights PADI6
Area of Science:
- Human Genetics
- Reproductive Biology
- Embryology
Background:
- The PADI6 gene is crucial for the subcortical maternal effect complex (SCMC).
- PADI6 mutations are linked to early embryonic arrest, impacting human embryonic genome activation.

