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

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Last updated 12 abril 2025
Ultra-Rare Syndromes: The Example of Rubinstein-Taybi Syndrome
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
PDF) Oro-dental features as useful diagnostic tool in Rubinstein–Taybi syndrome
Ultra-Rare Syndromes: The Example of Rubinstein-Taybi Syndrome
PDF) De novo variation in EP300 gene cause Rubinstein-Taybi syndrome 2 in a Chinese family with severe early-onset high myopia
Ultra-Rare Syndromes: The Example of Rubinstein-Taybi Syndrome
Ultra-Rare Syndromes: The Example of Rubinstein-Taybi Syndrome. - Abstract - Europe PMC
Ultra-Rare Syndromes: The Example of Rubinstein-Taybi Syndrome
CBP-HSF2 structural and functional interplay in Rubinstein-Taybi neurodevelopmental disorder
Ultra-Rare Syndromes: The Example of Rubinstein-Taybi Syndrome
Frontiers Rare diseases of epigenetic origin: Challenges and opportunities
Ultra-Rare Syndromes: The Example of Rubinstein-Taybi Syndrome
PDF) Thyroid Function in Rubinstein-Taybi Syndrome
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
Congenital Hypothyroidism Associated with Rubinstein-Taybi Syndrome
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