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    Female Pseudohermaphroditism Caused by a Novel Homozygous Missense Mutation of the GR Gene

    Berenice Bilharinho Mendonça, Maria Laís dos Santos Leite, Margaret de Castro … Ana Claudia Latrônico
    Studysummary This study describes the first case of female pseudohermaphroditism due to a novel homozygous glucocorticoid receptor gene mutation, indicating possible pre- and postnatal virilization in affected females.
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    Research cited in this study 1

    1. Familial Cortisol Resistance: Differential Diagnostic and Therapeutic Aspects The Journal of Clinical Endocrinology & Metabolism · 1986