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...
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| Autors principals: | , , |
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| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
Wiley
2020-09-01
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| Col·lecció: | Molecular Genetics & Genomic Medicine |
| Matèries: | |
| Accés en línia: | https://doi.org/10.1002/mgg3.1396 |
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