Novel Androgen Receptor Gene Variant Containing a Premature Termination Codon in a Patient with Androgen Insensitivity Syndrome

    August 2019 in “ Journal of pediatric & adolescent gynecology ”
    Laura Pranckėnienė, Žana Bumbulienė, Darius Dasevičius … Eglė Preikšaitienė
    Studysummary This report describes a novel AR gene mutation in a female patient, contributing to androgen insensitivity syndrome, and emphasizes its potential impact on genetic counseling.
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    1. Novel Androgen Receptor Gene Variant Containing a Premature Termination Codon in a Patient with Androgen Insensitivity Syndrome Journal of pediatric & adolescent gynecology · 2019