A novel mutation c.4003 G>C in the CREBBP gene in an adult female with Rubinstein–Taybi syndrome presenting with subtle dysmorphic features - Li - 2010 - American Journal of Medical Genetics Part

Rubinstein-Taybi syndrome: MedlinePlus Genetics

PDF) Rubinstein-Taybi syndrome: Clinical features, genetic basis, diagnosis, and management

Chumei Li's research works McMaster University, Hamilton (McMaster) and other places

Genes, Free Full-Text

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

A Novel CREBBP in-Frame Deletion Variant in a Chinese Girl with Atypical Rubinstein–Taybi Syndrome Phenotypes

PDF) Rubinstein-Taybi syndrome: Clinical features, genetic basis, diagnosis, and management

Marta Szybowska's research works University of Toronto, Toronto (U of T) and other places

Rubinstein–Taybi syndrome: clinical and molecular overview, Expert Reviews in Molecular Medicine

PDF) Rubinstein-Taybi syndrome: Clinical features, genetic basis, diagnosis, and management

Characterization of 14 novel deletions underlying Rubinstein–Taybi syndrome: an update of the CREBBP deletion repertoire

Frontiers Genetic Diagnosis of Rubinstein–Taybi Syndrome With Multiplex Ligation-Dependent Probe Amplification (MLPA) and Whole-Exome Sequencing (WES): Case Series With a Novel CREBBP Variant