Copy Number Variation in Patients with Disorders of Sex Development Due to 46,XY Gonadal Dysgenesis

Disorders of sex development (DSD), ranging in severity from mild genital abnormalities to complete sex reversal, represent a major concern for patients and their families. DSD are often due to disruption of the genetic programs that regulate gonad development. Although some genes have been identifi...

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主要な著者: White, Stefan, Ohnesorg, Thomas, Notini, Amanda, Roeszler, Kelly, Hewitt, Jacqueline, Daggag, Hinda, Smith, Craig, Turbitt, Erin, Gustin, Sonja, van den Bergen, Jocelyn, Miles, Denise, Western, Patrick, Arboleda, Valerie, Schumacher, Valerie, Gordon, Lavinia, Bell, Katrina, Bengtsson, Henrik, Speed, Terry, Hutson, John, Warne, Garry, Harley, Vincent, Koopman, Peter, Vilain, Eric, Sinclair, Andrew
フォーマット: Artigo
言語:Inglês
出版事項: Public Library of Science 2011
主題:
Research Article
オンライン･アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC3049794/
https://ncbi.nlm.nih.gov/pubmed/21408189
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0017793
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