Publications:

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

Bmc Medical Genetics

Bentivegna, Angela A; Milani, Donatella D; Gervasini, Cristina C; Castronovo, Paola P; Mottadelli, Federica F; Manzini, Stefano S; Colapietro, Patrizia P; Giordano, Lucio L; Atzeri, Francesca F; Divizia, Maria T MT; Uzielli, Maria L Giovannucci ML; Neri, Giovanni G; Bedeschi, Maria F MF; Faravelli, Francesca F; Selicorni, Angelo A; Larizza, Lidia L

Publication Date: 2006-10-19

Variant appearance in text: CREBBP: 4560+14A>G

PubMed Link: 17052327

Variant Present in the following documents:

• Main text
• 1471-2350-7-77.pdf

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