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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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Detalles Bibliográficos
Autores principales: 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.
Formato: Texto
Lenguaje:English
Publicado: Public Library of Science 2010
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2964326/
https://www.ncbi.nlm.nih.gov/pubmed/21048976
http://dx.doi.org/10.1371/journal.pone.0015392