A novel large deletion of the ICR1 region including H19 and putative enhancer elements

BACKGROUND: Beckwith-Wiedemann syndrome (BWS) is a rare pediatric overgrowth disorder with a variable clinical phenotype caused by deregulation affecting imprinted genes in the chromosomal region 11p15. Alterations of the imprinting control region 1 (ICR1) at the IGF2/H19 locus resulting in bialleli...

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Detalles Bibliográficos
Autores principales: Fryssira, Helen, Amenta, Stella, Kanber, Deniz, Sofocleous, Christalena, Lykopoulou, Evangelia, Kanaka-Gantenbein, Christina, Cerrato, Flavia, Lüdecke, Hermann-Josef, Bens, Susanne, Riccio, Andrea, Buiting, Karin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2015
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4630834/
https://www.ncbi.nlm.nih.gov/pubmed/25943194
http://dx.doi.org/10.1186/s12881-015-0173-2

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