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Clinical, Biological and Genetic Analysis of Anorchia in 26 Boys

BACKGROUND: Anorchia is defined as the absence of testes in a 46,XY individual with a male phenotype. The cause is unknown. METHODS: We evaluated the clinical and biological presentation, and family histories of 26 boys with anorchia, and sequenced their SRY, NR5A1, INSL3, MAMLD1 genes and the T222P...

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Detalles Bibliográficos
Autores principales: Brauner, Raja, Neve, Mathieu, Allali, Slimane, Trivin, Christine, Lottmann, Henri, Bashamboo, Anu, McElreavey, Ken
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2011
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3154292/
https://www.ncbi.nlm.nih.gov/pubmed/21853106
http://dx.doi.org/10.1371/journal.pone.0023292