Identification of De Novo Copy Number Variants Associated with Human Disorders of Sexual Development

Disorders of sexual development (DSD), ranging in severity from genital abnormalities to complete sex reversal, are among the most common human birth defects with incidence rates reaching almost 3%. Although causative alterations in key genes controlling gonad development have been identified, the m...

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Hlavní autoři: Tannour-Louet, Mounia, Han, Shuo, Corbett, Sean T., Louet, Jean-Francois, Yatsenko, Svetlana, Meyers, Lindsay, Shaw, Chad A., Kang, Sung-Hae L., Cheung, Sau Wai, Lamb, Dolores J.
Médium: Artigo
Jazyk:Inglês
Vydáno: Public Library of Science 2010
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Research Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC2964326/
https://ncbi.nlm.nih.gov/pubmed/21048976
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0015392
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