title: Rubinstein-Taybi because of a novel EP300 mutation with novel clinical findings.
authors.affiliation: aDepartment of Pediatrics bJagiellonian University Medical College, Kraków cDepartment of Medical Genetics, Institute of Mother and Child, Warsaw, Poland dJeroen KJ van Houdt, Center for Human Genetics, University Hospital Gasthuisberg, Catholic University Leuven, Leuven, Belgium.
authors.forename: Mateusz
authors.initials: M
authors.lastname: Jagla
authors.forename: Tomasz B
authors.initials: TB
authors.lastname: Tomasik
authors.forename: Ola
authors.initials: O
authors.lastname: Czyz
authors.forename: Mateusz
authors.initials: M
authors.lastname: Krol
authors.forename: Jeroen K J
authors.initials: JKJ
authors.lastname: van Houdt
authors.forename: Przemko
authors.initials: P
authors.lastname: Kwinta
authors.forename: Beata A
authors.initials: BA
authors.lastname: Nowakowska
mesh_terms: D000483:Alleles; D015415:Biomarkers; D050881:E1A-Associated p300 Protein / Q000235:genetics*; D004569:Electroencephalography; D005260:Female; D056726:Genetic Association Studies; D005838:Genotype; D006801:Humans; D007231:Infant, Newborn; D059785:Karyotype; D008279:Magnetic Resonance Imaging; D009154:Mutation; D010641:Phenotype; D012415:Rubinstein-Taybi Syndrome / Q000175:diagnosis* / Q000235:genetics*; D014463:Ultrasonography; D000073359:Exome Sequencing
chemical_list: D015415:Biomarkers; D050881:E1A-Associated p300 Protein; C494360:EP300 protein, human