Ultra-Rare Syndromes: The Example of Rubinstein-Taybi Syndrome

Rubinstein-Taybi Syndrome 1

Congenital glaucoma as a presenting feature of Rubinstein-Taybi

First case report of inherited Rubinstein-Taybi syndrome associated with a novel EP300 variant, BMC Medical Genetics

Chromosome 16p13.3 Contiguous Gene Deletion Syndrome including the SLX4, DNASE1, TRAP1, and CREBBP Genes Presenting as a Relatively Mild Rubinstein- Taybi Syndrome Phenotype: A Case Report of a Saudi Boy. - Document

PDF) Rubinstein-Taybi syndrome medical guidelines

Mosaic CREBBP mutation causes overlapping clinical features of Rubinstein– Taybi and Filippi syndromes

Rubinstein–Taybi syndrome in diverse populations - Tekendo

Rubinstein-Taybi syndrome in a Saudi boy with distinct features

New insights into genetic variant spectrum and genotype–phenotype

Growth charts for individuals with Rubinstein–Taybi syndrome