Rubinstein-Taybi 2 associated to novel EP300 mutations: deepening the clinical and genetic spectrum

BACKGROUND: Rubinstein-Taybi syndrome (RSTS) is a rare autosomal dominant neurodevelopmental disorder characterized by broad thumbs and halluces. RSTS is caused by mutations in CREBBP and in EP300 genes in 50–60% and 8%, respectively. Up to now, 76 RSTS-EP300 patients have been described. We present...

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Detalles Bibliográficos
Autores principales: López, María, García-Oguiza, Alberto, Armstrong, Judith, García-Cobaleda, Inmaculada, García-Miñaur, Sixto, Santos-Simarro, Fernando, Seidel, Verónica, Domínguez-Garrido, Elena
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2018
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5839060/
https://www.ncbi.nlm.nih.gov/pubmed/29506490
http://dx.doi.org/10.1186/s12881-018-0548-2

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5839060/
https://www.ncbi.nlm.nih.gov/pubmed/29506490
http://dx.doi.org/10.1186/s12881-018-0548-2

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