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A novel EIF4ENIF1 mutation associated with a diminished ovarian reserve and premature ovarian insufficiency identified by whole-exome sequencing
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 the proba...
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
BioMed Central
2019
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6896303/ https://www.ncbi.nlm.nih.gov/pubmed/31810472 http://dx.doi.org/10.1186/s13048-019-0595-0 |