Genetic Heterogeneity in Rubinstein-Taybi Syndrome: Mutations in
Por um escritor misterioso
Last updated 01 abril 2025


Rubinstein-Taybi syndrome: MedlinePlus Genetics

A case of Rubinstein-Taybi Syndrome with a CREB-binding protein gene mutation

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

Rubinstein-Taybi syndrome - Wikidata

Frontiers Behavioral and neuropsychiatric challenges across the lifespan in individuals with Rubinstein-Taybi syndrome

Ocular features in Rubinstein-Taybi syndrome: investigation of 24 patients and review of the literature

Rubinstein-Taybi 2 associated to novel EP300 mutations: deepening the clinical and genetic spectrum, BMC Medical Genetics

Genes, Free Full-Text

Localisation of nine CREBBP mutations (six of them of novel

Rubinstein Taybi Syndrome: Most Up-to-Date Encyclopedia, News & Reviews

Rubinstein-Taybi Syndrome: A case report

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
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