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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...
Autores principales: | Kapama, Aikaterini, Papadimitriou, Dimitrios T., Mastorakos, George, Vlahos, Nikolaos F., Papagianni, Maria |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9777019/ https://www.ncbi.nlm.nih.gov/pubmed/36553343 http://dx.doi.org/10.3390/children9121900 |
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