Fetal phenotype of Rubinstein‐Taybi syndrome caused by CREBBP

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

Molecular studies in 10 cases of Rubinstein-Taybi syndrome, including a mild variant showing a missense mutation in codon 1175 of CREBBP

A) Location of the exon CREBBP mutations found in this study. Only

JCI - Administration of BMP2/7 in utero partially reverses Rubinstein-Taybi syndrome–like skeletal defects induced by Pdk1 or Cbp mutations in mice

Rubinstein-Taybi Syndrome 2 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

Genes, Free Full-Text

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

Rubinstein–Taybi syndrome - Wikipedia

Rubinstein-Taybi syndrome 2 with cerebellar abnormality and neural tube defect. - Abstract - Europe PMC

CREBBP Gene - GeneCards, CBP Protein