Rubinstein-Taybi syndrome (RTS)

Anaesthesia Management in a Child with Rubinstein - Taybi Syndrome

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

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

Cureus Barrett's Esophagus in Rubinstein-Taybi Syndrome

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

JCM, Free Full-Text

NRF1 Association with AUTS2-Polycomb Mediates Specific Gene Activation in the Brain

What is CdLS? Ben and his Brothers: Life with 4 boys and CdLS

Expanding the phenotype associated to KMT2A variants: overlapping clinical signs between Wiedemann–Steiner and Rubinstein–Taybi syndromes

Frontiers Behavioral and neuropsychiatric challenges across the