Exome sequencing reveals MCM8 mutation underlies ovarian failure and chromosomal instability.

  title={Exome sequencing reveals MCM8 mutation underlies ovarian failure and chromosomal instability.},
  author={Saleh Ahmed Alasiri and Sulman Basit and Michelle A Wood-Trageser and Svetlana A Yatsenko and Elizabeth P Jeffries and Urvashi Surti and Deborah M Ketterer and Sibtain Afzal and Khushnooda Ramzan and Muhammad Faiyaz-Ul Haque and Huaiyang Jiang and Michael A Trakselis and Aleksandar Rajkovic},
  journal={The Journal of clinical investigation},
  volume={125 1},
Premature ovarian failure (POF) is a genetically and phenotypically heterogeneous disorder that includes individuals with manifestations ranging from primary amenorrhea to loss of menstrual function prior to age 40. POF presents as hypergonadotropic hypogonadism and can be part of a syndrome or occur in isolation. Here, we studied 3 sisters with primary amenorrhea, hypothyroidism, and hypergonadotropic hypogonadism. The sisters were born to parents who are first cousins. SNP analysis and whole… CONTINUE READING
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