Legius Syndrome - an overview

Genes, Free Full-Text

Rubinstein-Taybi Syndrome 1

A novel mutation c.4003 G>C in the CREBBP gene in an adult female with Rubinstein–Taybi syndrome presenting with subtle dysmorphic features - Li - 2010 - American Journal of Medical Genetics Part

Clinical heterogeneity of Kabuki syndrome in a cohort of Italian patients and review of the literature

Cureus, Whole-Exome Sequencing Identified a Novel DYRK1A Variant in a Patient With Intellectual Developmental Disorder, Autosomal Dominant 7

Cornelia de Lange Syndrome - GeneReviews® - NCBI Bookshelf

PDF) An unusual presentation of Rubinstein-Taybi Syndrome with bilateral postaxial polydactyly Corresponding author

Rubinstein-Taybi syndrome (RTS)

Identification of de novo EP300 and PLAU variants in a patient with Rubinstein–Taybi syndrome-related arterial vasculopathy and skeletal anomaly

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