Genetic heterogeneity in Rubinstein–Taybi syndrome: delineation of the phenotype of the first patients carrying mutations in EP300
Por um escritor misterioso
Last updated 05 julho 2024
First case report of inherited Rubinstein-Taybi syndrome associated with a novel EP300 variant, BMC Medical Genetics
A novel CREBBP mutation and its phenotype in a case of Rubinstein–Taybi syndrome, BMC Medical Genomics
Epigenetic mechanisms of Rubinstein-Taybi syndrome. - Abstract - Europe PMC
Frontiers Behavioral and neuropsychiatric challenges across the lifespan in individuals with Rubinstein-Taybi syndrome
PDF] Genetic heterogeneity in Rubinstein-Taybi syndrome: mutations in both the CBP and EP300 genes cause disease.
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
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
Rubinstein-Taybi 2 associated to novel EP300 mutations: deepening the clinical and genetic spectrum, BMC Medical Genetics
iPSC-derived neurons of CREBBP- and EP300-mutated Rubinstein-Taybi syndrome patients show morphological alterations and hypoexcitability - ScienceDirect
Rubinstein–Taybi syndrome in diverse populations - Tekendo‐Ngongang - 2020 - American Journal of Medical Genetics Part A - Wiley Online Library
Genetic heterogeneity in Rubinstein–Taybi syndrome: delineation of the phenotype of the first patients carrying mutations in EP300
High frequency of copy number imbalances in Rubinstein–Taybi patients negative to CREBBP mutational analysis
Expanding the phenotypic spectrum in EP300‐related Rubinstein–Taybi syndrome - Solomon - 2015 - American Journal of Medical Genetics Part A - Wiley Online Library
High frequency of copy number imbalances in Rubinstein–Taybi patients negative to CREBBP mutational analysis
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