Novel Missense Mutation in the P-Box of Androgen Receptor in a Patient with Androgen Insensitivity Syndrome

    January 2008 in “ Endocrine journal ”
    Noriyuki Katsumata, Reiko Horikawa, Toshiaki Tanaka
    Studysummary In this case report, the authors describe a partial androgen insensitivity syndrome patient with a novel AR gene mutation, highlighting challenges in gender assignment decisions for infants with partial AIS.
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