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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Hlavní autoři: Raja Brauner, Mathieu Neve, Slimane Allali, Christine Trivin, Henri Lottmann, Anu Bashamboo, Ken McElreavey
Médium: Artigo
Jazyk:Inglês
Vydáno: Public Library of Science (PLoS) 2011-01-01
Edice:PLoS ONE
On-line přístup:http://europepmc.org/articles/PMC3154292?pdf=render
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