Rubinstein-Taybi Syndrome: A Complete Overview — DermNet
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Rubinstein-Taybi syndrome (RTS), or broad thumb-hallux syndrome, is a rare genetic condition with a broad phenotypic spectrum that ranges from mild to severe abnormal morphology.
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Facial dysmorphism, skeletal anomalies, congenital glucoma, dysplastic nails: Mild Rubinstein-Taybi Syndrome - ScienceDirect
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
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
A Case of Rubinstein-Taybi Syndrome with Tetralogy of Fallot
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
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Rubinstein–Taybi syndrome European Journal of Human Genetics
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Rubinstein-Taybi Syndrome 1
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