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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Hlavní autoři:	Fei Wang, Sheng Guo, Pin Li
Médium:	Artigo
Jazyk:	Inglês
Vydáno:	Wiley 2020-09-01
Edice:	Molecular Genetics & Genomic Medicine
Témata:	adolescents DNA repair MCM8 primary ovarian insufficiency short stature
On-line přístup:	https://doi.org/10.1002/mgg3.1396
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