A novel frameshift mutation in the 5alpha-reductase type 2 gene in Korean sisters with male pseudohermaphroditism.

@article{Kim2006ANF,
  title={A novel frameshift mutation in the 5alpha-reductase type 2 gene in Korean sisters with male pseudohermaphroditism.},
  author={Sung Hoon Kim and Kun Suk Kim and Gu Hwan Kim and Byung Moon Kang and Han Wook Yoo},
  journal={Fertility and sterility},
  year={2006},
  volume={85 3},
  pages={
          750.e9-750.e12
        }
}
OBJECTIVE To describe two cases of 5alpha-reductase deficiency and the identification of a novel frameshift mutation in this sibling pair. DESIGN Case report. SETTING An adolescent clinic at a university hospital. PATIENT(S) A 14-year-old girl and her younger sister, who presented with primary amenorrhea, deepening of the voice, and clitoromegaly. INTERVENTION(S) Deoxyribonucleic acid was extracted from peripheral blood, and 8 exons of the androgen receptor gene and 5 exons of the… CONTINUE READING

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