Prevalence of Immunological Defects in a Cohort of 97 Rubinstein–Taybi Syndrome Patients
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High frequency of copy number imbalances in Rubinstein–Taybi patients negative to CREBBP mutational analysis
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
Prevalence of Immunological Defects in a Cohort of 97 Rubinstein–Taybi Syndrome Patients
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