Two novel mutations in the MCM8 gene shared by two Chinese siblings with primary ovarian insufficiency and short stature
Abstract Background Minichromosome maintenance complex component 8 (MCM8) is responsible for homologous recombination and DNA double‐strand breaks (DSBs) repair and is the cause of primary ovarian insufficiency (POI), which is seldom diagnosed in adolescents and children. Methods Whole‐exome sequenc...
Saved in:
| Main Authors: | , , |
|---|---|
| Format: | Artigo |
| Language: | Inglês |
| Published: |
Wiley
2020-09-01
|
| Series: | Molecular Genetics & Genomic Medicine |
| Subjects: | |
| Online Access: | https://doi.org/10.1002/mgg3.1396 |
| Tags: |
No Tags, Be the first to tag this record!
|