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Two novel mutations in the MCM8 gene shared by two Chinese siblings with primary ovarian insufficiency and short stature
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 sequencing was...
| Autores principales: | , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
John Wiley and Sons Inc.
2020
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7507566/ https://www.ncbi.nlm.nih.gov/pubmed/32652893 http://dx.doi.org/10.1002/mgg3.1396 |