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rubinstein taybi omim
Rubinstein-Taybi 2 associated to novel EP300 mutations: deepening the clinical and genetic spectrum, BMC Medical Genetics
Rubinstein–Taybi syndrome in diverse populations - Tekendo
PDF) An unusual presentation of Rubinstein-Taybi Syndrome with bilateral postaxial polydactyly Corresponding author
Rubinstein‐Taybi syndrome in Chinese population with four novel
PDF) Rubinstein-Taybi Syndrome: A Model of Epigenetic Disorder
Rubinstein-Taybi Syndrome: A Rare Case Report
First case report of inherited Rubinstein-Taybi syndrome associated with a novel EP300 variant, BMC Medical Genetics
Mosaic CREBBP mutation causes overlapping clinical features of Rubinstein– Taybi and Filippi syndromes
PDF) Rubinstein–Taybi syndrome (CREBBP, EP300) Martine van Belzen and Oliver Bartsch
PDF) CREBBP and EP300 mutational spectrum and clinical presentations in a cohort of Swedish patients with Rubinstein–Taybi syndrome
Fetal phenotype of Rubinstein‐Taybi syndrome caused by CREBBP mutations - Van‐Gils - 2019 - Clinical Genetics - Wiley Online Library
Chemical and genetic rescue of an ep300 knockdown model for Rubinstein Taybi Syndrome in zebrafish - ScienceDirect
Clinical and molecular findings of the six patients with Rubinstein
Chromosome 16p13.3 Contiguous Gene Deletion Syndrome including the SLX4, DNASE1, TRAP1, and CREBBP Genes Presenting as a Relatively Mild Rubinstein- Taybi Syndrome Phenotype: A Case Report of a Saudi Boy. - Document
High frequency of copy number imbalances in Rubinstein–Taybi patients negative to CREBBP mutational analysis
Case report: a Chinese girl like atypical Rubinstein–Taybi syndrome caused by a novel heterozygous mutation of the EP300 gene, BMC Medical Genomics
PDF) Prevalence of Immunological Defects in a Cohort of 97 Rubinstein–Taybi Syndrome Patients
Rubinstein–Taybi syndrome: clinical and molecular overview
Fetal phenotype of Rubinstein‐Taybi syndrome caused by CREBBP
Genes involved in histone acetylation known to cause rare diseases
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