First case report of inherited Rubinstein-Taybi syndrome associated with a novel EP300 variant

BACKGROUND: Rubinstein-Taybi syndrome (RSTS; OMIM #180849, #613684) is a rare autosomal dominant genetic condition characterized by broad thumbs and halluces, facial dysmorphism, short stature and variable degree of intellectual disability. RSTS is associated with mutations in CREBBP and EP300 genes...

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Detalles Bibliográficos
Autores principales: López, María, Seidel, Verónica, Santibáñez, Paula, Cervera-Acedo, Cristina, Castro-de Castro, Pedro, Domínguez-Garrido, Elena
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2016
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5154174/
https://www.ncbi.nlm.nih.gov/pubmed/27964710
http://dx.doi.org/10.1186/s12881-016-0361-8

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5154174/
https://www.ncbi.nlm.nih.gov/pubmed/27964710
http://dx.doi.org/10.1186/s12881-016-0361-8

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