Rubinstein–Taybi syndrome in diverse populations - Tekendo
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Last updated 01 julho 2024
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Identification of CREBBP mutation. A, Pedigree of family affected by
![Rubinstein–Taybi syndrome in diverse populations - Tekendo](https://www.researchgate.net/publication/352725992/figure/fig2/AS:1038431769595906@1624592835735/Mutation-spectrum-of-CREBBP-and-EP300-in-RSTS-individuals-referenced-in-the-literature_Q320.jpg)
PDF) Rubinstein-Taybi Syndrome: A Model of Epigenetic Disorder
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PDF) Turner syndrome in diverse populations
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PDF) Rubinstein-Taybi Syndrome: A Model of Epigenetic Disorder
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Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner syndrome. - Abstract - Europe PMC
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A novel CREBBP mutation and its phenotype in a case of Rubinstein–Taybi syndrome, BMC Medical Genomics
![Rubinstein–Taybi syndrome in diverse populations - Tekendo](https://onlinelibrary.wiley.com/cms/asset/083be383-7b05-4587-851a-6e07b48d0749/pcn534-gra-0001-m.jpg?trick=1698800353741)
Identification of 22q11.2 deletion in a patient with schizophrenia and clinically diagnosed Rubinstein–Taybi syndrome - Nagai - 2022 - Psychiatry and Clinical Neurosciences Reports - Wiley Online Library
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Rubinstein-Taybi syndrome: principal oral and dental disorders and literature update
![Rubinstein–Taybi syndrome in diverse populations - Tekendo](https://www.researchgate.net/profile/Markus-Stumm/publication/12728248/figure/fig1/AS:276489128955920@1442931553766/continued_Q320.jpg)
PDF) FISH studies in 45 patients with Rubinstein-Taybi syndrome: Deletions associated with polysplenia, hypoplastic left heart and death in infancy
![Rubinstein–Taybi syndrome in diverse populations - Tekendo](https://www.researchgate.net/publication/6744123/figure/tbl1/AS:669683489439754@1536676394295/Main-clinical-signs-of-the-thirty-one-Italian-RSTS-patients.png)
Main clinical signs of the thirty-one Italian RSTS patients.
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Genes, Free Full-Text
![Rubinstein–Taybi syndrome in diverse populations - Tekendo](https://i1.rgstatic.net/publication/45695194_Exon_deletions_of_the_EP300_and_CREBBP_genes_in_two_children_with_Rubinstein-Taybi_syndrome_detected_by_aCGH/links/00b7d520a840b38d1b000000/largepreview.png)
PDF) Exon deletions of the EP300 and CREBBP genes in two children with Rubinstein-Taybi syndrome detected by aCGH
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Rubinstein–Taybi syndrome in diverse populations - Tekendo‐Ngongang - 2020 - American Journal of Medical Genetics Part A - Wiley Online Library
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