Exon deletions of the EP300 and CREBBP genes in two children with
Por um escritor misterioso
Last updated 15 abril 2025

Del Dup And Array - PreventionGenetics

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

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

Exome Sequencing Identification of EP300 Mutation in a Proband with Coloboma and Imperforate Anus: Possible Expansion of the Phenotypic Spectrum of Rubinstein-Taybi Syndrome

Histone acetylation deficits in lymphoblastoid cell lines from patients with Rubinstein–Taybi syndrome

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

Genomic Profiling of Adult and Pediatric B-cell Acute Lymphoblastic Leukemia - eBioMedicine

Chromosome 16p13.3 Deletion Syndrome, Proximal disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials
View of Prognostic and Predictive Biomarkers in Precursor B-cell Acute Lymphoblastic Leukemia

Divergent variant patterns among 19 patients with Rubinstein‐Taybi syndrome uncovered by comprehensive genetic analysis including whole genome sequencing - Enomoto - 2022 - Clinical Genetics - Wiley Online Library

CREBBP/EP300 mutations promoted tumor progression in diffuse large B-cell lymphoma through altering tumor-associated macrophage polarization via FBXW7-NOTCH-CCL2/CSF1 axis

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

Cancers, Free Full-Text

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

Mutation spectrum of CREBBP and EP300 in RSTS individuals referenced in
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