Rubinstein–Taybi syndrome: clinical and molecular overview, Expert Reviews in Molecular Medicine
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Last updated 12 abril 2025


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

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

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

Rubinstein-Taybi syndrome with agenesis of corpus callosum. - Abstract - Europe PMC

Rubinstein-Taybi Syndrome: A Case Report

Epigenetic Mechanisms of Rubinstein–Taybi Syndrome

Analysis of mutations within the intron20 splice donor site of CREBBP in patients with and without classical RSTS

Rubinstein-Taybi Syndrome 2 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

Rubinstein-Taybi syndrome: clinical features, genetic basis, diagnosis, and management, Italian Journal of Pediatrics

Rubinstein–Taybi syndrome European Journal of Human Genetics

PDF) Rubinstein-Taybi syndrome: A case report

Rubinstein-Taybi syndrome with agenesis of corpus callosum. - Abstract - Europe PMC
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