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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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| Publicat a: | Ital J Pediatr |
|---|---|
| Autors principals: | , , , , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
BioMed Central
2015
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4308897/ https://ncbi.nlm.nih.gov/pubmed/25599811 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13052-015-0110-1 |
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