High frequency of copy number imbalances in Rubinstein–Taybi

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

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: New neuroradiological and neuropsychiatric insights from a multidisciplinary approach - Ajmone - 2018 - American Journal of Medical Genetics Part B: Neuropsychiatric Genetics - Wiley Online Library

Genes, Free Full-Text

The identification of microdeletion syndromes and other chromosome abnormalities: Cytogenetic methods of the past, new technologies for the future - Shaffer - 2007 - American Journal of Medical Genetics Part C: Seminars

Detection of pathogenic copy number variants in children with idiopathic intellectual disability using 500 K SNP array genomic hybridization, BMC Genomics

Frontiers Genetic Predisposition to Solid Pediatric Cancers

High frequency of copy number imbalances in Rubinstein–Taybi patients negative to CREBBP mutational analysis

The clinical context of copy number variation in the human genome, Expert Reviews in Molecular Medicine

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

Genes, Free Full-Text