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Ultra-Rare Syndromes: The Example of Rubinstein–Taybi Syndrome
Rubinstein–Taybi syndrome (RSTS) is a rare, congenital, plurimalformative, and neurodevelopmental disorder. Clinical diagnosis can be complicated by the heterogeneous clinical presentation and the lack of a consensus list of diagnostic criteria, and it is confirmed by molecular tests in approximatel...
Gardado en:
| Publicado en: | J Pediatr Genet |
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| Main Authors: | , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado: |
Georg Thieme Verlag KG
2015
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| Acceso en liña: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4918723/ https://ncbi.nlm.nih.gov/pubmed/27617129 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1055/s-0035-1564571 |
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