Frontiers Behavioral and neuropsychiatric challenges across the lifespan in individuals with Rubinstein-Taybi syndrome

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Forgotten Diseases Research Foundation

Figure 1. [Facial appearance of a girl age 11 years with FHS (SRCAP pathogenic variant p.Arg2444Ter)]. - GeneReviews® - NCBI Bookshelf

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A mosaic maternal splice donor mutation in the EHMT1 gene leads to aberrant transcripts and to Kleefstra syndrome in the offspring

Clinical and mutational spectrum in Korean patients with Rubinstein–Taybi syndrome: The spectrum of brain MRI abnormalities - ScienceDirect

Full article: Psychomotor, cognitive, and socio-emotional developmental profiles of children with Rubinstein-Taybi Syndrome and a severe intellectual disability

A novel CREBBP mutation and its phenotype in a case of Rubinstein

Identification of de novo EP300 and PLAU variants in a patient

Rubinstein-Taybi syndrome with agenesis of corpus callosum. - Abstract - Europe PMC