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An 11p15 Imprinting Centre Region 2 Deletion in a Family with Beckwith Wiedemann Syndrome Provides Insights into Imprinting Control at CDKN1C

We report a three generation family with Beckwith Wiedemann syndrome (BWS) in whom we have identified a 330 kb deletion within the KCNQ1 locus, encompassing the 11p15.5 Imprinting Centre II (IC2). The deletion arose on the paternal chromosome in the first generation and was only associated with BWS...

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Detalles Bibliográficos
Autores principales:	Algar, Elizabeth, Dagar, Vinod, Sebaj, Menka, Pachter, Nicholas
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Public Library of Science 2011
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3242768/ https://www.ncbi.nlm.nih.gov/pubmed/22205991 http://dx.doi.org/10.1371/journal.pone.0029034

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