High frequency of copy number imbalances in Rubinstein–Taybi
Por um escritor misterioso
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Identification of a novel de novo mutation of CREBBP in a patient with Rubinstein-Taybi syndrome by targeted next-generation sequencing: a case report - ScienceDirect
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Rubinstein–Taybi syndrome: New neuroradiological and neuropsychiatric insights from a multidisciplinary approach - Ajmone - 2018 - American Journal of Medical Genetics Part B: Neuropsychiatric Genetics - Wiley Online Library
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Clinical exome sequencing identifies novel CREBBP variants in 18 Chinese Rubinstein–Taybi Syndrome kids with high frequency of polydactyly - Yu - 2019 - Molecular Genetics & Genomic Medicine - Wiley Online Library
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Rubinstein–Taybi syndrome: clinical and molecular overview, Expert Reviews in Molecular Medicine
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PDF) Nephrotic syndrome in a case of Rubinstein Taybi syndrome: a rare case report
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CNV analysis in Chinese children of mental retardation highlights a sex differentiation in parental contribution to de novo and inherited mutational burdens
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The clinical context of copy number variation in the human genome, Expert Reviews in Molecular Medicine
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Rubinstein–Taybi syndrome: clinical and molecular overview, Expert Reviews in Molecular Medicine
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Rubinstein–Taybi syndrome: New neuroradiological and neuropsychiatric insights from a multidisciplinary approach - Ajmone - 2018 - American Journal of Medical Genetics Part B: Neuropsychiatric Genetics - Wiley Online Library
![High frequency of copy number imbalances in Rubinstein–Taybi](https://media.springernature.com/full/springer-static/image/art%3A10.1038%2Fgim.2011.46/MediaObjects/41436_2012_Article_BFgim201146_Fig1_HTML.gif)
NF1 microduplications: identification of seven nonrelated individuals provides further characterization of the phenotype
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