Whole exome sequencing reveals EP300 mutation in mildly affected female: expansion of the spectrum.
Clin Case Rep
; 4(7): 696-8, 2016 Jul.
Article
em En
| MEDLINE
| ID: mdl-27386132
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.
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Base de dados:
MEDLINE
Idioma:
En
Revista:
Clin Case Rep
Ano de publicação:
2016
Tipo de documento:
Article