Molecular analysis of 5alpha-reductase type 2 gene in eight unrelated egyptian children with suspected 5alpha-reductase deficiency: prevalence of the G34R mutation.

@article{Mazen2003MolecularAO,
  title={Molecular analysis of 5alpha-reductase type 2 gene in eight unrelated egyptian children with suspected 5alpha-reductase deficiency: prevalence of the G34R mutation.},
  author={Inas M. Mazen and Yehia Zakaria Gad and Mona Hassan Hafez and Charles S Sultan and Serge Lumbroso},
  journal={Clinical endocrinology},
  year={2003},
  volume={58 5},
  pages={627-31}
}
OBJECTIVE Analysis of the 5alpha-reductase type 2 (SRD5A2) gene in Egyptian patients with suspected 5alpha-reductase (5alphaR) deficiency. PATIENTS AND METHODS Eight unrelated patients, originating from different geographical areas of Egypt, were referred to the Department of Pediatrics. Six prepubertal and two postpubertal patients presented with ambiguous genitalia. Four were being reared as females while the others were being reared as males. Six patients were products of consanguineous… CONTINUE READING
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