Identification of Two Additional Novel Mutations in the AR Gene Associated with Severe Forms of Androgen Insensitivity Syndrome

    September 2019 in “ Steroids ”
    Maher Kharrat, Asma Tajouri, Imen Ben Nacef … Habiba Chaâbouni
    Studysummary In this study, genetic testing confirmed the diagnosis of Androgen insensitivity syndrome in most CAIS patients in Tunisia and identified two previously unreported mutations in the androgen receptor gene.
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    Research cited in this study 2

    1. The E211 G>A Androgen Receptor Polymorphism Is Associated With a Decreased Risk of Metastatic Prostate Cancer and Androgenetic Alopecia Cancer Epidemiology, Biomarkers & Prevention · 2005
    2. Polymorphism of the Androgen Receptor Gene Is Associated with Male Pattern Baldness Journal of Investigative Dermatology · 2001

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    1. Identification of Two Additional Novel Mutations in the AR Gene Associated with Severe Forms of Androgen Insensitivity Syndrome Steroids · 2019