Rubinstein-Taybi syndrome with agenesis of corpus callosum

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

Figure 2. [Dorsal (A) and palmar (B)]. - GeneReviews® - NCBI Bookshelf

Cureus Barrett's Esophagus in Rubinstein-Taybi Syndrome

PDF) Rubinstein-Taybi syndrome in diverse populations

Cockayne Syndrome: Most Up-to-Date Encyclopedia, News & Reviews

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

Beckwith-Wiedemann Syndrome - GeneReviews® - NCBI Bookshelf

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

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

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