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

Opposing Effects of CREBBP Mutations Govern the Phenotype of Rubinstein-Taybi Syndrome and Adult SHH Medulloblastoma - ScienceDirect

Figure 1 from Mutations in CKAP2L, the human homolog of the mouse Radmis gene, cause Filippi syndrome.

RSTS Encyclopedia MDPI

Genetic Basis for Congenital Heart Disease: Revisited: A Scientific Statement From the American Heart Association

Genes, Free Full-Text

A case with Rubinstein-Taybi syndrome: A novel frameshift mutation in the CREBBP gene.

Fetal phenotype of Rubinstein‐Taybi syndrome caused by CREBBP mutations - Van‐Gils - 2019 - Clinical Genetics - Wiley Online Library

Genes, Free Full-Text

Clinical relevance of postzygotic mosaicism in Cornelia de Lange syndrome and purifying selection of NIPBL variants in blood

High frequency of mosaic CREBBP deletions in Rubinstein–Taybi syndrome patients and mapping of somatic and germ-line breakpoints - ScienceDirect

Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement. - Abstract - Europe PMC