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Start Over Descriptor "E1A-Associated p300 Protein metabolism" Language japanese

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1 results on '"E1A-Associated p300 Protein metabolism"'

1. Rubinstein-Taybi syndrome.

Author

Kosaki R

Subjects
CREB-Binding Protein genetics, E1A-Associated p300 Protein genetics, Humans, Rubinstein-Taybi Syndrome genetics, CREB-Binding Protein metabolism, E1A-Associated p300 Protein metabolism, Rubinstein-Taybi Syndrome metabolism
Abstract

Rubinstein-Taybi syndrome (RTS) is characterized by moderate to severe intellectual disability, distinctive facial features, and broad thumbs and great toes. RTS is caused by haploinsufficiency of CREBBP or EP300 gene.

Published
2017

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