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PDF) Rubinstein-Taybi 2 associated to novel EP300 mutations: Deepening the clinical and genetic spectrum

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Last updated 17 dezembro 2024

PDF) Rubinstein-Taybi 2 associated to novel EP300 mutations: Deepening the clinical and genetic spectrum

Rubinstein-Taybi Syndrome: spectrum of CREBBP mutations in Italian patients, BMC Medical Genetics

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

CBP-HSF2 structural and functional interplay in Rubinstein-Taybi neurodevelopmental disorder

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

CBP-HSF2 structural and functional interplay in Rubinstein-Taybi neurodevelopmental disorder

Phenotype and genotype in 52 patients with Rubinstein–Taybi syndrome caused by EP300 mutations - Fergelot - 2016 - American Journal of Medical Genetics Part A - Wiley Online Library

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PDF) Genetic Diagnosis of Rubinstein–Taybi Syndrome With Multiplex Ligation-Dependent Probe Amplification (MLPA) and Whole-Exome Sequencing (WES): Case Series With a Novel CREBBP Variant

Frontiers Genetic Diagnosis of Rubinstein–Taybi Syndrome With Multiplex Ligation-Dependent Probe Amplification (MLPA) and Whole-Exome Sequencing (WES): Case Series With a Novel CREBBP Variant

New insights into genetic variant spectrum and genotype–phenotype correlations of Rubinstein‐Taybi syndrome in 39 CREBBP‐positive patients - Pérez‐Grijalba - 2019 - Molecular Genetics & Genomic Medicine - Wiley Online Library

Genetic and clinical heterogeneity in Korean patients with Rubinstein–Taybi syndrome - Choi - 2021 - Molecular Genetics & Genomic Medicine - Wiley Online Library

Genetic Heterogeneity in Rubinstein-Taybi Syndrome: Mutations in Both the CBP and EP300 Genes Cause Disease - ScienceDirect

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