genereviews.org - GeneReviews® - NCBI Bookshelf

Forgotten Diseases Research Foundation

Rubinstein-Taybi Syndrome 1

Genes, Free Full-Text

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

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

Expanding the phenotype associated to KMT2A variants: overlapping

A novel CREBBP mutation and its phenotype in a case of Rubinstein

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

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