Ocular symptoms in patients with Rubinstein-Taybi syndrome; 117 out of

Rubinstein-Taybi syndrome: MedlinePlus Genetics

Congenital glaucoma as a presenting feature of Rubinstein-Taybi

First case report of inherited Rubinstein-Taybi syndrome associated with a novel EP300 variant – topic of research paper in Clinical medicine. Download scholarly article PDF and read for free on CyberLeninka open

Clinical and molecular findings of the six patients with Rubinstein

PDF) FISH studies in 45 patients with Rubinstein-Taybi syndrome: Deletions associated with polysplenia, hypoplastic left heart and death in infancy

Case report: a Chinese girl like atypical Rubinstein–Taybi syndrome caused by a novel heterozygous mutation of the EP300 gene, BMC Medical Genomics

PDF) CREBBP and EP300 mutational spectrum and clinical presentations in a cohort of Swedish patients with Rubinstein–Taybi syndrome

Genes involved in histone acetylation known to cause rare diseases

Rubinstein-Taybi syndrome - wikidoc

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