Molecular studies in 10 cases of Rubinstein-Taybi syndrome
Por um escritor misterioso
Last updated 04 abril 2025


Rubinstein–Taybi Syndrome in a Filipino Infant with a Novel CREBBP Gene Pathogenic Variant

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Rubinstein-Taybi Syndrome

Opposing Effects of CREBBP Mutations Govern the Phenotype of Rubinstein-Taybi Syndrome and Adult SHH Medulloblastoma - ScienceDirect

Rubinstein-Taybi syndrome: MedlinePlus Genetics

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 in a Saudi boy with distinct features and variants in both the CREBBP and EP300 genes: a case report, BMC Medical Genetics

PDF) Epigenetic Mechanisms of Rubinstein–Taybi Syndrome

Epigenetic mechanisms of Rubinstein-Taybi syndrome. - Abstract - Europe PMC

Frontiers Case report: A preterm infant with rubinstein-taybi syndrome and Marmorata telangiectatica harboring a frameshift mutation in the CREBBP gene

Prediction of an RTI deletion using selected Rubinstein-Taybi syndrome

Rubinstein-Taybi Syndrome

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 European Journal of Human Genetics

PDF) Rubinstein-Taybi syndrome with normal FISH result and CREBBP gene analysis: A case report
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