High frequency of copy number imbalances in Rubinstein–Taybi patients negative to CREBBP mutational analysis

Rubinstein–Taybi syndrome (RSTS) is a rare autosomal dominant disorder characterised by facial dysmorphisms, growth and psychomotor development delay, and skeletal defects. The known genetic causes are point mutations or deletions of the CREBBP (50–60%) and EP300 (5%) genes. To detect chromosomal re...

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Detalhes bibliográficos
Main Authors: Gervasini, Cristina, Mottadelli, Federica, Ciccone, Roberto, Castronovo, Paola, Milani, Donatella, Scarano, Gioacchino, Bedeschi, Maria Francesca, Belli, Serena, Pilotta, Alba, Selicorni, Angelo, Zuffardi, Orsetta, Larizza, Lidia
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group 2010
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2987354/
https://ncbi.nlm.nih.gov/pubmed/20125191
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2010.1
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