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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...
| Autores principales: | , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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BioMed Central
2016
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| 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 |