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Identification of a novel mutation in exon 1 of androgen receptor gene in an azoospermic patient with mild androgen insensitivity syndrome: case report.

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Presentation on theme: "Identification of a novel mutation in exon 1 of androgen receptor gene in an azoospermic patient with mild androgen insensitivity syndrome: case report."— Presentation transcript:

1 Identification of a novel mutation in exon 1 of androgen receptor gene in an azoospermic patient with mild androgen insensitivity syndrome: case report and literature review  Umberto Goglia, M.D., Ph.D., Cinzia Vinanzi, Ph.D., Daniela Zuccarello, M.D., Ph.D., Davide Malpassi, M.D., Pietro Ameri, M.D., Massimo Casu, M.D., Francesco Minuto, M.D., Carlo Foresta, M.D., Diego Ferone, M.D., Ph.D.  Fertility and Sterility  Volume 96, Issue 5, Pages (November 2011) DOI: /j.fertnstert Copyright © 2011 American Society for Reproductive Medicine Terms and Conditions

2 Figure 1 Physical features of the subject. Note the poor facial (A), axillar (B), and pubic hair, small scrotum, and normal penis (C). Fertility and Sterility  , DOI: ( /j.fertnstert ) Copyright © 2011 American Society for Reproductive Medicine Terms and Conditions

3 Figure 2 Pedigree of patient family and sequence chromatogram of the proband and his mother. The brother, otherwise normal, did not accept the genetic analysis. Arrows indicate the position of the G to T transversion. Fertility and Sterility  , DOI: ( /j.fertnstert ) Copyright © 2011 American Society for Reproductive Medicine Terms and Conditions

4 Figure 3 Comparison across the AR transactivation domain amino acid sequences of different genera. Fertility and Sterility  , DOI: ( /j.fertnstert ) Copyright © 2011 American Society for Reproductive Medicine Terms and Conditions


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