Mutations in the FOG2/ZFPM2 gene are associated with anomalies of human testis determination.

@article{Bashamboo2014MutationsIT,
  title={Mutations in the FOG2/ZFPM2 gene are associated with anomalies of human testis determination.},
  author={A. Bashamboo and R. Brauner and J. Bignon-Topalovic and S. Lortat-Jacob and Vasiliki Karageorgou and D. Lourenço and A. Guffanti and K. McElreavey},
  journal={Human molecular genetics},
  year={2014},
  volume={23 14},
  pages={
          3657-65
        }
}
In recent years, considerable advances have been made in our understanding of genetics of mammalian gonad development; however, the underlying genetic aetiology in the majority of patients with 46,XY disorders of sex development (DSD) still remains unknown. Based on mouse models, it has been hypothesized that haploinsufficiency of the Friend of GATA 2 (FOG2) gene could lead to 46,XY gonadal dysgenesis on specific inbred genetic backgrounds. Using whole exome sequencing, we identified… Expand
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