Exon deletions of the EP300 and CREBBP genes in two children with
Por um escritor misterioso
Last updated 25 abril 2025


Exon deletions of the EP300 and CREBBP genes in two children with Rubinstein–Taybi syndrome detected by aCGH

CREBBP (CREB binding protein)

Unique and Shared Epigenetic Programs of the CREBBP and EP300 Acetyltransferases in Germinal Center B Cells Reveal Targetable Dependencies in Lymphoma - ScienceDirect

Unique and Shared Epigenetic Programs of the CREBBP and EP300 Acetyltransferases in Germinal Center B Cells Reveal Targetable Dependencies in Lymphoma - ScienceDirect

NRF1 Association with AUTS2-Polycomb Mediates Specific Gene Activation in the Brain

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

KMT2D acetylation by CREBBP reveals a cooperative functional interaction at enhancers in normal and malignant germinal center B cells

A novel CREBBP mutation and its phenotype in a case of Rubinstein–Taybi syndrome, BMC Medical Genomics

Mutation spectrum of CREBBP and EP300 in RSTS individuals referenced in

Genes, Free Full-Text

PDF] Genetic heterogeneity in Rubinstein-Taybi syndrome: mutations in both the CBP and EP300 genes cause disease.

Childhood Cancer Genomics (PDQ®) - PDQ Cancer Information Summaries - NCBI Bookshelf

De novo variation in EP300 gene cause Rubinstein-Taybi syndrome 2 in a Chinese family with severe early-onset high myopia, BMC Medical Genomics

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

Inactivating mutations of acetyltransferase genes in B-cell lymphoma
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