Paternal deletion of the 11p15.5 centromeric-imprinting control region is associated with alteration of imprinted gene expression and recurrent severe intrauterine growth restriction

BACKGROUND: Heterogeneous molecular defects affecting the 11p15.5 imprinted gene cluster are associated with the opposite growth disorders Beckwith-Wiedemann Syndrome (BWS) and Silver Russell syndrome (SRS). Maternal deletions of the centromeric domain usually result in BWS, but paternal deletions h...

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Hlavní autoři: De Crescenzo, Agostina, Sparago, Angela, Cerrato, Flavia, Palumbo, Orazio, Carella, Massimo, Miceli, Marco, Bronshtein, Moshe, Riccio, Andrea, Yaron, Yuval
Médium: Artigo
Jazyk:Inglês
Vydáno: BMJ Publishing Group 2013
Témata:
Epigenetics
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3585485/
https://ncbi.nlm.nih.gov/pubmed/23243085
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmedgenet-2012-101352
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