title: Whole exome sequencing reveals EP300 mutation in mildly affected female: expansion of the spectrum.
abstract: Rubinstein-Taybi syndrome is associated with intellectual and physical features. CREBBP and EP300 are causative. Few cases of EP300 mutations are reported. We report a case with mild features of RSTS and EP300 mutation on exome sequencing. This illustrates the utility of exome sequencing to expand every genetic phenotype.
authors.affiliation: Section of Genetics and Metabolism Department of Pediatrics University of Arkansas for Medical Sciences Little Rock Arkansas.
authors.forename: Elizabeth A
authors.initials: EA
authors.lastname: Sellars
authors.affiliation: Division of Human Genetics Cincinnati Children's Hospital Medical Center Cincinnati Ohio.
authors.forename: Bonnie R
authors.initials: BR
authors.lastname: Sullivan
authors.affiliation: Section of Genetics and Metabolism Department of Pediatrics University of Arkansas for Medical Sciences Little Rock Arkansas.
authors.forename: G Bradley
authors.initials: GB
authors.lastname: Schaefer
keywords: CREBBP; EP300; Rubinstein–Taybi syndrome; whole exome sequencing