Rubinstein-Taybi Syndrome: spectrum of CREBBP mutations in Italian patients

BACKGROUND: Rubinstein-Taybi Syndrome (RSTS, MIM 180849) is a rare congenital disorder characterized by mental and growth retardation, broad and duplicated distal phalanges of thumbs and halluces, facial dysmorphisms and increased risk of tumors. RSTS is caused by chromosomal rearrangements and poin...

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Detalles Bibliográficos
Autores principales: Bentivegna, Angela, Milani, Donatella, Gervasini, Cristina, Castronovo, Paola, Mottadelli, Federica, Manzini, Stefano, Colapietro, Patrizia, Giordano, Lucio, Atzeri, Francesca, Divizia, Maria T, Uzielli, Maria L Giovannucci, Neri, Giovanni, Bedeschi, Maria F, Faravelli, Francesca, Selicorni, Angelo, Larizza, Lidia
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2006
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1626071/
https://www.ncbi.nlm.nih.gov/pubmed/17052327
http://dx.doi.org/10.1186/1471-2350-7-77

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1626071/
https://www.ncbi.nlm.nih.gov/pubmed/17052327
http://dx.doi.org/10.1186/1471-2350-7-77

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