Ontology highlight
ABSTRACT:
SUBMITTER: Perez-Grijalba V
PROVIDER: S-EPMC6825870 | biostudies-literature | 2019 Nov
REPOSITORIES: biostudies-literature
Pérez-Grijalba Virginia V García-Oguiza Alberto A López María M Armstrong Judith J García-Miñaur Sixto S Mesa-Latorre Jose María JM O'Callaghan Mar M Pineda Marfa Mercé M Ramos-Arroyo Maria Antonia MA Santos-Simarro Fernando F Seidel Verónica V Domínguez-Garrido Elena E
Molecular genetics & genomic medicine 20190930 11
<h4>Background</h4>Rubinstein-Taybi syndrome (RSTS) is a rare congenital disorder characterized by broad thumbs and halluces, intellectual disability, distinctive facial features, and growth retardation. Clinical manifestations of RSTS are varied and overlap with other syndromes' phenotype, which makes clinical diagnosis challenging. CREBBP is the major causative gene (55%-60% of the cases), whereas pathogenic variants found in EP300 represent the molecular cause in 8% of RSTS patients. A wide r ...[more]