Identification of the Rare Ala871Glu Mutation in the Androgen Receptor Gene Leading to Complete Androgen Insensitivity Syndrome in an Adolescent Girl with Primary Amenorrhea

Complete Androgen Insensitivity Syndrome (CAIS) is a rare genetic condition by mutations in the androgen receptor (AR) gene resulting in target issue resistance to androgens and a female phenotype in genetically male individuals. A 16-year-old phenotypically female individual presented to our clinic...

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Main Authors: Aikaterini Kapama (Author), Dimitrios T. Papadimitriou (Author), George Mastorakos (Author), Nikolaos F. Vlahos (Author), Maria Papagianni (Author)
Format: Book
Published: MDPI AG, 2022-12-01T00:00:00Z.
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3rd Floor Main Library

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Call Number: A1234.567
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