High frequency of mosaic CREBBP deletions in Rubinstein-Taybi syndrome patients and mapping of somatic and germ-line breakpoints

Cristina Gervasini, Paola Castronovo, Angela Bentivegna, Federica Mottadelli, Francesca Faravelli, Maria Luisa Giovannucci-Uzielli, Alice Pessagno, Emanuela Lucci-Cordisco, Anna Maria Pinto, Leonardo Salviati, Angelo Selicorni, Romano Tenconi, Giovanni Neri, Lidia Larizza

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Medicine & Life Sciences