(Epi)genotype-phenotype correlations in Beckwith-Wiedemann syndrome.

doi:10.1038/ejhg.2015.88

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Article

(Epi)genotype-phenotype correlations in Beckwith-Wiedemann syndrome.

European journal of human genetics : EJHG - 1 Feb 2016

Mussa Alessandro, Russo Silvia, De Crescenzo Agostina, Freschi Andrea, Calzari Luciano, Maitz Silvia, Macchiaiolo Marina, Molinatto Cristina, Baldassarre Giuseppina, Mariani Milena, Tarani Luigi, Bedeschi Maria Francesca, Milani Donatella, Melis Daniela, Bartuli Andrea, Cubellis Maria Vittoria, Selicorni Angelo, Cirillo Silengo Margherita, Larizza Lidia, Riccio Andrea, Ferrero Giovanni Battista

Abstract excerpt

Beckwith-Wiedemann syndrome (BWS) is characterized by cancer predisposition, overgrowth and highly variable association of macroglossia, abdominal wall defects, nephrourological anomalies, nevus flammeus, ear malformations, hypoglycemia, hemihyperplasia, and organomegaly. BWS molecular defects, causing alteration of expression or activity of the genes regulated by two imprinting centres (IC) in the 11p15...

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PMID: 25898929
DOI: 10.1038/ejhg.2015.88
PMCID: PMC4717210

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