Exon deletions of the EP300 and CREBBP genes in two children with
Descrição
Clinical and molecular characteristics of MEF2D fusion-positive B-cell precursor acute lymphoblastic leukemia in childhood, including a novel translocation resulting in MEF2D-HNRNPH1 gene fusion
Rubinstein–Taybi syndrome: clinical and molecular overview, Expert Reviews in Molecular Medicine
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
A novel CREBBP mutation and its phenotype in a case of Rubinstein–Taybi syndrome, BMC Medical Genomics
Schematic representation of p300 protein and EP300 gene, including
Fusion proteins detected in TCGA cohort with genes relevant to this
Histone acetylation deficits in lymphoblastoid cell lines from patients with Rubinstein–Taybi syndrome
Genes, Free Full-Text
Exon deletions of the EP300 and CREBBP genes in two children with Rubinstein–Taybi syndrome detected by aCGH
Rubinstein–Taybi syndrome: clinical and molecular overview, Expert Reviews in Molecular Medicine
CREBBP (CREB binding protein)
Clonal and microclonal mutational heterogeneity in high hyperdiploid acute lymphoblastic leukemia
From Whole Gene Deletion to Point Mutations of EP300‐Positive Rubinstein–Taybi Patients: New Insights into the Mutational Spectrum and Peculiar Clinical Hallmarks - Negri - 2016 - Human Mutation - Wiley Online Library
RSTS Encyclopedia MDPI
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