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Home > Our Research Activities > List Of Publications > Rubinstein-Taybi Syndrome: A Model of Epigenetic Disorder

Rubinstein-Taybi Syndrome: A Model of Epigenetic Disorder

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Loss-of-function and missense variants in NSD2 cause decreased methylation activity and are associated with a distinct developmental phenotype
Missense variants in DPYSL5 cause a neurodevelopmental disorder with corpus callosum agenesis and cerebellar abnormalities
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