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

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Last updated 18 maio 2024
Ultra-Rare Syndromes: The Example of Rubinstein-Taybi Syndrome
Ultra-Rare Syndromes: The Example of Rubinstein-Taybi Syndrome
Role of the ADCY9 gene in cardiac abnormalities of the Rubinstein-Taybi syndrome, Orphanet Journal of Rare Diseases
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
High frequency of copy number imbalances in Rubinstein–Taybi patients negative to CREBBP mutational analysis
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
PDF] Rubinstein-Taybi Syndrome: A Case Report
Ultra-Rare Syndromes: The Example of Rubinstein-Taybi Syndrome
Rubinstein‐Taybi syndrome in Chinese population with four novel mutations - Yu - 2021 - American Journal of Medical Genetics Part A - 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
Rubinstein-Taybi Syndrome 1
Ultra-Rare Syndromes: The Example of Rubinstein-Taybi Syndrome
Figure 3 from Rubinstein-Taybi Syndrome: A Case Report
Ultra-Rare Syndromes: The Example of Rubinstein-Taybi Syndrome
Rubinstein-Taybi Syndrome: A Rare Case Report
Ultra-Rare Syndromes: The Example of Rubinstein-Taybi Syndrome
4 Newborn with Rubinstein-Taybi syndrome showing microcephaly, frontal
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
Details of all reported patients with pilomatricomas and Rubinstein-Taybi syndrome.
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