Genetic Heterogeneity in Rubinstein-Taybi Syndrome: Mutations in
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Last updated 01 abril 2025


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

PDF] Genetic heterogeneity in Rubinstein-Taybi syndrome: mutations in both the CBP and EP300 genes cause disease.

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

Microdeletions and mutations of CREBBP (CBP) gene can cause

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

PDF) Rubinstein–Taybi syndrome (CREBBP, EP300) Martine van Belzen and Oliver Bartsch

Genes, Free Full-Text

Figure 3 from Rubinstein-Taybi Syndrome: A Female Patient with a De Novo Reciprocal Translocation T(2; 16)(Q36.3; P13.3) and Dysgranulopoiesis

Rubinstein-Taybi syndrome: MedlinePlus Genetics

Rubinstein-Taybi syndrome: MedlinePlus Genetics

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