Two maternal duplications involving the CDKN1C gene are associated with contrasting growth phenotypes

BACKGROUND: The overgrowth-associated Beckwith-Wiedemann syndrome (BWS) and the undergrowth-associated Silver-Russell syndrome (SRS) are characterized by heterogeneous molecular defects affecting a large imprinted gene cluster at chromosome 11p15.5-p15.4. While maternal and paternal duplications of...

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Detalhes bibliográficos
Publicado no:Clin Epigenetics
Main Authors: Boonen, Susanne Eriksen, Freschi, Andrea, Christensen, Rikke, Valente, Federica Maria, Lildballe, Dorte Launholt, Perone, Lucia, Palumbo, Orazio, Carella, Massimo, Uldbjerg, Niels, Sparago, Angela, Riccio, Andrea, Cerrato, Flavia
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2016
Assuntos:
Short Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4910218/
https://ncbi.nlm.nih.gov/pubmed/27313795
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13148-016-0236-z
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