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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Detalles Bibliográficos
Autores principales: Begemann, Matthias, Spengler, Sabrina, Gogiel, Magdalena, Grasshoff, Ute, Bonin, Michael, Betz, Regina C, Dufke, Andreas, Spier, Isabel, Eggermann, Thomas
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BMJ Group 2012
Materias:
Chromosomal Rearrangements
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3439641/
https://www.ncbi.nlm.nih.gov/pubmed/22844132
http://dx.doi.org/10.1136/jmedgenet-2012-100967

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3439641/
https://www.ncbi.nlm.nih.gov/pubmed/22844132
http://dx.doi.org/10.1136/jmedgenet-2012-100967

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