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Rubinstein-Taybi Syndrome: A Model of Epigenetic Disorder

The Rubinstein-Taybi syndrome (RSTS) is a rare congenital developmental disorder characterized by a typical facial dysmorphism, distal limb abnormalities, intellectual disability, and many additional phenotypical features. It occurs at between 1/100,000 and 1/125,000 births. Two genes are currently...

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Detalles Bibliográficos
Autores principales: Van Gils, Julien, Magdinier, Frederique, Fergelot, Patricia, Lacombe, Didier
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8303114/
https://www.ncbi.nlm.nih.gov/pubmed/34202860
http://dx.doi.org/10.3390/genes12070968