Whole exome sequencing reveals EP300 mutation in mildly affected female: expansion of the spectrum.
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ABSTRACT:
SUBMITTER: Sellars EA
PROVIDER: S-EPMC4929809 | biostudies-literature | 2016 Jul
REPOSITORIES: biostudies-literature
Publications
Whole exome sequencing reveals EP300 mutation in mildly affected female: expansion of the spectrum.
Sellars Elizabeth A EA Sullivan Bonnie R BR Schaefer G Bradley GB
Clinical case reports 20160610 7
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. ...[more]
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