Rubinstein-Taybi syndrome: clinical features, genetic basis, diagnosis, and management

BACKGROUND: Rubinstein-Taybi syndrome (RSTS) is an extremely rare autosomal dominant genetic disease, with an estimated prevalence of one case per 125,000 live births. RSTS is characterized by typical facial features, microcephaly, broad thumbs and first toes, intellectual disability, and postnatal...

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Detalles Bibliográficos
Autores principales: Milani, Donatella, Manzoni, Francesca Maria Paola, Pezzani, Lidia, Ajmone, Paola, Gervasini, Cristina, Menni, Francesca, Esposito, Susanna
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2015
Materias:
Debate
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4308897/
https://www.ncbi.nlm.nih.gov/pubmed/25599811
http://dx.doi.org/10.1186/s13052-015-0110-1

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4308897/
https://www.ncbi.nlm.nih.gov/pubmed/25599811
http://dx.doi.org/10.1186/s13052-015-0110-1

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