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- W2021866053 abstract "To describe the clinical, biological and molecular data in a large Egyptian kindred with 5alpha-reductase deficiency.Three patients with ambiguous genitalia were referred at the ages of 20, 9 and 2 years, respectively. In all cases, parents were first cousins. Basal and post-HCG stimulation plasma levels of testosterone and dihydrotestosterone were determined. Direct sequencing and restriction site analysis were applied for patient and family study.A homozygous alanine to glutamic acid substitution at position 62 (A62E) was found in the three patients. The parents and two XX sisters were heterozygous while a third XX sibling was normal.We report a new mutation of the 5alpha-reductase type 2 gene. The presence of this mutation in all studied patients and their parents suggests its causative role in 5alpha-reductase deficiency. Identification of the mutation enabled genetic counselling for three XX individuals." @default.
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- W2021866053 date "2003-01-01" @default.
- W2021866053 modified "2023-09-26" @default.
- W2021866053 title "A New Mutation of 5-Alpha-Reductase Type 2 (A62E) in a Large Egyptian Kindred" @default.
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- W2021866053 doi "https://doi.org/10.1159/000070626" @default.
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