(Epi)genotype–phenotype correlations in Beckwith–Wiedemann syndrome

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, caus...

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Publicado en:Eur J Hum Genet
Main Authors: 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
Formato: Artigo
Idioma:Inglês
Publicado: Nature Publishing Group 2016
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Article
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC4717210/
https://ncbi.nlm.nih.gov/pubmed/25898929
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2015.88
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