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

Malformations of Cortical Development

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

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

Zebrafish has two co-orthologues of ep300. (a) Phylogenetic tree of

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

Malformations of Cortical Development

Confirmation of EP300 gene mutations as a rare cause of Rubinstein–Taybi syndrome

Variant Analysis in Floating-Harbor Syndrome Probands

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

Nervous system defects in the ep300 morphant zebrafish reveals new