MCM9 mutations are associated with ovarian failure, short stature, and chromosomal instability.

@article{WoodTrageser2014MCM9MA,
  title={MCM9 mutations are associated with ovarian failure, short stature, and chromosomal instability.},
  author={Michelle A Wood-Trageser and F Gulruh Gurbuz and Svetlana A Yatsenko and Elizabeth P Jeffries and Leman Damla Kotan and Urvashi Surti and Deborah M Ketterer and Jelena Matic and Jacqueline Chipkin and Huaiyang Jiang and Michael A Trakselis and Ali kemal Topaloglu and Aleksandar Rajkovic},
  journal={American journal of human genetics},
  year={2014},
  volume={95 6},
  pages={754-62}
}
Premature ovarian failure (POF) is genetically heterogeneous and manifests as hypergonadotropic hypogonadism either as part of a syndrome or in isolation. We studied two unrelated consanguineous families with daughters exhibiting primary amenorrhea, short stature, and a 46,XX karyotype. A combination of SNP arrays, comparative genomic hybridization arrays, and whole-exome sequencing analyses identified homozygous pathogenic variants in MCM9, a gene implicated in homologous recombination and… CONTINUE READING
Recent Discussions
This paper has been referenced on Twitter 7 times over the past 90 days. VIEW TWEETS

Citations

Publications citing this paper.
Showing 1-10 of 30 extracted citations

Similar Papers

Loading similar papers…