Two novel mutations in the MCM8 gene shared by two Chinese siblings with primary ovarian insufficiency and short stature

ConclusionOur results reveal that affected children with the novel pathogenetic mutations p.C242R and p.S445* in theMCM8 gene are characterized by POI, short stature, cancer susceptibility, and genomic instability.

Source: Molecular Genetics & Genomic Medicine - July 10, 2020 Category: Genetics & Stem Cells Authors: Fei Wang, Sheng Guo, Pin Li Tags: ORIGINAL ARTICLE Source Type: research