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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...

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Detalhes bibliográficos
Publicado no:J Pediatr Genet
Main Authors: Spena, Silvia, Gervasini, Cristina, Milani, Donatella
Formato: Artigo
Idioma:Inglês
Publicado em: Georg Thieme Verlag KG 2015
Acesso em linha: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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