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

Ocular symptoms in patients with Rubinstein-Taybi syndrome; 117 out of

PDF) Rubinstein-Taybi Syndrome: A Model of Epigenetic Disorder

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

OMIM diseases as a function of associated HPO phenotypes. Data include

PDF) FISH studies in 45 patients with Rubinstein-Taybi syndrome: Deletions associated with polysplenia, hypoplastic left heart and death in infancy

Rubinstein-Taybi syndrome - wikidoc

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

Rubinstein-Taybi syndrome in a Saudi boy with distinct features and variants in both the CREBBP and EP300 genes: a case report, BMC Medical Genetics

Expanding the phenotype associated to KMT2A variants: overlapping

Rubinstein-Taybi syndrome in a Saudi boy with distinct features