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Two novel mutations in the MCM8 gene shared by two Chinese siblings with primary ovarian insufficiency and short stature.
Molecular Genetics & Genomic Medicine ( IF 1.5 ) Pub Date : 2020-07-11 , DOI: 10.1002/mgg3.1396 Fei Wang 1 , Sheng Guo 1 , Pin Li 1
Molecular Genetics & Genomic Medicine ( IF 1.5 ) Pub Date : 2020-07-11 , DOI: 10.1002/mgg3.1396 Fei Wang 1 , Sheng Guo 1 , Pin Li 1
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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.
更新日期：2020-09-14
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