A novel EIF4ENIF1 mutation associated with a diminished ovarian reserve and premature ovarian insufficiency identified by whole-exome sequencing
Abstract Background To dissect the genetic causes underlying diminished ovarian reserve (DOR) and premature ovarian insufficiency (POI) within a family. Methods Whole-exome sequencing of the proband was performed and DOR and Sanger sequencing was carried out to validate presence of the variant in th...
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
BMC
2019-12-01
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| Series: | Journal of Ovarian Research |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s13048-019-0595-0 |