TY - JOUR AU - Bentivegna, Angela AU - Milani, Donatella AU - Gervasini, Cristina AU - Castronovo, Paola AU - Mottadelli, Federica AU - Manzini, Stefano AU - Colapietro, Patrizia AU - Giordano, Lucio AU - Atzeri, Francesca AU - Divizia, Maria T. AU - Uzielli, Maria L. Giovannucci AU - Neri, Giovanni AU - Bedeschi, Maria F. AU - Faravelli, Francesca AU - Selicorni, Angelo AU - Larizza, Lidia PY - 2006 DA - 2006/10/19 TI - Rubinstein-Taybi Syndrome: spectrum of CREBBP mutations in Italian patients JO - BMC Medical Genetics SP - 77 VL - 7 IS - 1 AB - 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 point mutations in one copy of the CREB-binding protein gene (CREBBP or CBP) in 16p13.3. To date mutations in CREBBP have been reported in 56.6% of RSTS patients and an average figure of 10% has ascribed to deletions. SN - 1471-2350 UR - https://doi.org/10.1186/1471-2350-7-77 DO - 10.1186/1471-2350-7-77 ID - Bentivegna2006 ER -