A mutation in the nucleoporin-107 gene causes XX gonadal dysgenesis.

@article{WeinbergShukron2015AMI,
  title={A mutation in the nucleoporin-107 gene causes XX gonadal dysgenesis.},
  author={Ariella Weinberg-Shukron and Paul Renbaum and Rachel Kalifa and Sharon Zeligson and Ziva Ben-Neriah and Amatzia Dreifuss and Amal Abu-Rayyan and Noa Maatuk and Nilly Fardian and Dina Rekler and Moien Kanaan and Abraham O Samson and Ephrat Levy-Lahad and Offer Gerlitz and David Haim Zangen},
  journal={The Journal of clinical investigation},
  year={2015},
  volume={125 11},
  pages={4295-304}
}
Ovarian development and maintenance are poorly understood; however, diseases that affect these processes can offer insights into the underlying mechanisms. XX female gonadal dysgenesis (XX-GD) is a rare, genetically heterogeneous disorder that is characterized by underdeveloped, dysfunctional ovaries, with subsequent lack of spontaneous pubertal development, primary amenorrhea, uterine hypoplasia, and hypergonadotropic hypogonadism. Here, we report an extended consanguineous family of… CONTINUE READING
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