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...

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Detalles Bibliográficos
Autores principales: Wang, Fei, Guo, Sheng, Li, Pin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Original Articles
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

Internet

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

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