Ultra-Rare Syndromes: The Example of Rubinstein-Taybi Syndrome. - Abstract - Europe PMC

Clinical exome sequencing identifies novel CREBBP variants in 18 Chinese Rubinstein–Taybi Syndrome kids with high frequency of polydactyly - Yu - 2019 - Molecular Genetics & Genomic Medicine - Wiley Online Library

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

Ptosis in childhood: A clinical sign of several disorders: Case series reports and literature review. - Abstract - Europe PMC

The research projects of the winners - Foundation For Rare Diseases

Genes, Free Full-Text

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

Aberrant phase separation and nucleolar dysfunction in rare genetic diseases. - Abstract - Europe PMC

Ptosis in childhood: A clinical sign of several disorders: Case series reports and literature review. - Abstract - Europe PMC

A novel CREBBP mutation and its phenotype in a case of Rubinstein–Taybi syndrome, BMC Medical Genomics

Aberrant phase separation and nucleolar dysfunction in rare genetic diseases. - Abstract - Europe PMC