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Ultra-Rare Syndromes: The Example of Rubinstein-Taybi Syndrome

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Ultra-Rare Syndromes: The Example of Rubinstein-Taybi Syndrome
Novel heterozygous variants in the EP300 gene cause Rubinstein–Taybi syndrome 2: Reports from two Chinese children - Du - 2023 - Molecular Genetics & Genomic Medicine - Wiley Online Library
Ultra-Rare Syndromes: The Example of Rubinstein-Taybi Syndrome
PDF) New insights into genetic variant spectrum and genotype–phenotype correlations of Rubinstein‐Taybi syndrome in 39 CREBBP‐ positive patients
Ultra-Rare Syndromes: The Example of Rubinstein-Taybi Syndrome
Dermatologic Manifestations of Rubinstein-Taybi Syndrome: Background, Pathophysiology, Etiology
Ultra-Rare Syndromes: The Example of Rubinstein-Taybi Syndrome
Rubinstein-Taybi syndrome: MedlinePlus Genetics
Ultra-Rare Syndromes: The Example of Rubinstein-Taybi Syndrome
Rubinstein-Taybi syndrome: A report of two siblings with unreported cutaneous stigmata - Indian Journal of Dermatology, Venereology and Leprology
Ultra-Rare Syndromes: The Example of Rubinstein-Taybi Syndrome
Full article: Psychomotor, cognitive, and socio-emotional developmental profiles of children with Rubinstein-Taybi Syndrome and a severe intellectual disability
Ultra-Rare Syndromes: The Example of Rubinstein-Taybi Syndrome
High frequency of copy number imbalances in Rubinstein–Taybi patients negative to CREBBP mutational analysis
Ultra-Rare Syndromes: The Example of Rubinstein-Taybi Syndrome
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
Ultra-Rare Syndromes: The Example of Rubinstein-Taybi Syndrome
PDF] Rubinstein-Taybi Syndrome: A Case Report
Ultra-Rare Syndromes: The Example of Rubinstein-Taybi Syndrome
PDF] Rubinstein-Taybi Syndrome: A Case Report
Ultra-Rare Syndromes: The Example of Rubinstein-Taybi Syndrome
New insights into genetic variant spectrum and genotype–phenotype correlations of Rubinstein‐Taybi syndrome in 39 CREBBP‐positive patients - Pérez‐Grijalba - 2019 - Molecular Genetics & Genomic Medicine - Wiley Online Library
Ultra-Rare Syndromes: The Example of Rubinstein-Taybi Syndrome
Dermatologic Manifestations of Rubinstein-Taybi Syndrome Clinical Presentation: History, Physical Examination, Complications
Ultra-Rare Syndromes: The Example of Rubinstein-Taybi Syndrome
Figure 5 from Rubinstein-Taybi Syndrome: A Case Report
Ultra-Rare Syndromes: The Example of Rubinstein-Taybi Syndrome
Dermatologic Manifestations of Rubinstein-Taybi Syndrome: Background, Pathophysiology, Etiology
Ultra-Rare Syndromes: The Example of Rubinstein-Taybi Syndrome
Rubinstein-Taybi syndrome: MedlinePlus Genetics
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