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De novo paternal origin duplication of chromosome 11p15.5: report of two Chinese cases with Beckwith-Wiedemann syndrome

BACKGROUND: The molecular etiology of Beckwith-Wiedemann syndrome (BWS) is complex and heterogeneous. Several subtypes of epigenetic-genetic alterations including aberrant methylation patterns, segmental uniparental disomy, single gene mutations, and copy number changes have been described. An integ...

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Detalles Bibliográficos
Autores principales:	Wang, Qin, Geng, Qian, Zhou, Qinghua, Luo, Fuwei, Li, Peining, Xie, Jiansheng
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2017
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5738159/ https://www.ncbi.nlm.nih.gov/pubmed/29270226 http://dx.doi.org/10.1186/s13039-017-0347-z

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