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A Novel Mutation in Human Androgen Receptor Gene Causing Partial Androgen Insensitivity Syndrome in a Patient Presenting with Gynecomastia at Puberty
Partial androgen insensitivity syndrome (PAIS) typically presents with micropenis, perineoscrotal hypospadias, and a bifid scrotum with descending or undescending testes and gynecomastia at puberty. It is an X-linked recessive disorder resulting from mutations in the androgen receptor (AR) gene. How...
Autores principales: | , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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Galenos Publishing
2016
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Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5096482/ https://www.ncbi.nlm.nih.gov/pubmed/27087292 http://dx.doi.org/10.4274/jcrpe.2637 |