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

Forgotten Diseases Research Foundation

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

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

PDF) Rubinstein-Taybi syndrome: Dental manifestations and management

Müllerian Agenesis in a patient with Rubinstein-Taybi Syndrome: A Case Series and Review of the Overlapping Developmental Biologic Pathways - Journal of Pediatric and Adolescent Gynecology

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

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

Identification of de novo EP300 and PLAU variants in a patient

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