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

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Last updated 23 janeiro 2025
Ultra-Rare Syndromes: The Example of Rubinstein-Taybi Syndrome
Ultra-Rare Syndromes: The Example of Rubinstein-Taybi Syndrome
Rubinstein Taybi syndrome causes, symptoms, diagnosis, treatment & prognosis
Ultra-Rare Syndromes: The Example of Rubinstein-Taybi Syndrome
Molecular studies in 10 cases of Rubinstein-Taybi syndrome, including a mild variant showing a missense mutation in codon 1175 of CREBBP
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
Opposing Effects of CREBBP Mutations Govern the Phenotype of Rubinstein-Taybi Syndrome and Adult SHH Medulloblastoma - ScienceDirect
Ultra-Rare Syndromes: The Example of Rubinstein-Taybi Syndrome
IJMS, Free Full-Text
Ultra-Rare Syndromes: The Example of Rubinstein-Taybi Syndrome
Rubinstein–Taybi syndrome - Wikipedia
Ultra-Rare Syndromes: The Example of Rubinstein-Taybi Syndrome
Rubinstein–Taybi syndrome in diverse populations - Tekendo‐Ngongang - 2020 - American Journal of Medical Genetics Part A - Wiley Online Library
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
Ocular features in Rubinstein-Taybi syndrome: investigation of 24 patients and review of the literature
Ultra-Rare Syndromes: The Example of Rubinstein-Taybi Syndrome
De novo variation in EP300 gene cause Rubinstein-Taybi syndrome 2 in a Chinese family with severe early-onset high myopia, BMC Medical Genomics
Ultra-Rare Syndromes: The Example of Rubinstein-Taybi Syndrome
Rubinstein-Taybi 2 associated to novel EP300 mutations: deepening the clinical and genetic spectrum, BMC Medical Genetics
Ultra-Rare Syndromes: The Example of Rubinstein-Taybi Syndrome
Congenital Hypothyroidism Associated with Rubinstein-Taybi Syndrome
Ultra-Rare Syndromes: The Example of Rubinstein-Taybi Syndrome
Congenital Hypothyroidism Associated with Rubinstein-Taybi Syndrome
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