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- Title
Whole exome sequencing reveals EP300 mutation in mildly affected female: expansion of the spectrum.
- Authors
Sellars, Elizabeth A.; Sullivan, Bonnie R.; Schaefer, G. Bradley
- Abstract
Key Clinical Message 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.
- Subjects
RUBINSTEIN-Taybi syndrome; EXOMES; GENETIC mutation; CARRIER protein genetics; HUMAN chromosome abnormalities
- Publication
Clinical Case Reports, 2016, Vol 4, Issue 7, p696
- ISSN
2050-0904
- Publication type
Article
- DOI
10.1002/ccr3.598