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

Rubinstein-Taybi Syndrome: A Complete Overview — DermNet

Rubinstein-Taybi Syndrome 1

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

Extending the clinical and genetic spectrum of ARID2 related intellectual disability. A case series of 7 patients - ScienceDirect

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

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

JCM, Free Full-Text

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

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