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Key Clinical Message  Rubinstein–Taybi syndrome is associated with intellectual and physical features.   CREBBP   and   EP 300  are causative. Few cases of   EP 300  mutations are reported. We report a case with mild features of  RSTS  and   EP 300  mutation on exome sequencing. This illustrates the utility of exome sequencing to expand every genetic phenotype.

Whole exome sequencing reveals EP 300 mutation in mildly affected female: expansion of the spectrum