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...

Πλήρης περιγραφή

Αποθηκεύτηκε σε:
Λεπτομέρειες βιβλιογραφικής εγγραφής
Κύριοι συγγραφείς: 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
Μορφή: Artigo
Γλώσσα:Inglês
Έκδοση: BioMed Central 2006
Θέματα:
Research Article
Διαθέσιμο Online:https://ncbi.nlm.nih.gov/pmc/articles/PMC1626071/
https://ncbi.nlm.nih.gov/pubmed/17052327
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2350-7-77
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