Identification of de novo EP300 and PLAU variants in a patient with Rubinstein–Taybi syndrome-related arterial vasculopathy and skeletal anomaly

Case report: a Chinese girl like atypical Rubinstein–Taybi syndrome caused by a novel heterozygous mutation of the EP300 gene, BMC Medical Genomics

Vascular Ehlers–Danlos Syndrome in siblings with biallelic COL3A1 sequence variants and marked clinical variability in the extended family

Novel missense mutation in DLL4 in a Japanese sporadic case of Adams–Oliver syndrome

Subclass IgG levels of patients with Rubinstein-Taybi syndrome compared

Protein-protein interaction network describes the possible interaction

A somatic activating KRAS variant identified in an affected lesion of a patient with Gorham–Stout disease

Identification of de novo EP300 and PLAU variants in a patient with Rubinstein–Taybi syndrome-related arterial vasculopathy and skeletal anomaly

Jaw, fin and heart progenitor populations are affected by ep300

EP300‐related Rubinstein–Taybi syndrome: Highlighted rare phenotypic findings and a genotype–phenotype meta‐analysis of 74 patients - Cohen - 2020 - American Journal of Medical Genetics Part A - Wiley Online Library

Mutations in COL27A1 cause Steel syndrome and suggest a founder mutation effect in the Puerto Rican population

Rubinstein-Taybi 2 associated to novel EP300 mutations: deepening the clinical and genetic spectrum, BMC Medical Genetics

Creb3l2 protein (mouse) - STRING interaction network

Protein-protein interaction network describes the possible interaction