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Clinical significance of copy number variations in the 11p15.5 imprinting control regions: new cases and review of the literature

Among the clusters of imprinted genes in humans, one of the most relevant regions involved in human growth is localised in 11p15. Opposite epigenetic and genomic disturbances in this chromosomal region contribute to two distinct imprinting disorders associated with disturbed growth, Silver–Russell a...

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Autors principals: Begemann, Matthias, Spengler, Sabrina, Gogiel, Magdalena, Grasshoff, Ute, Bonin, Michael, Betz, Regina C, Dufke, Andreas, Spier, Isabel, Eggermann, Thomas
Format: Artigo
Idioma:Inglês
Publicat: BMJ Group 2012
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Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC3439641/
https://ncbi.nlm.nih.gov/pubmed/22844132
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmedgenet-2012-100967
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