Ultra-Rare Syndromes: The Example of Rubinstein-Taybi Syndrome
Por um escritor misterioso
Last updated 31 março 2025


Role of the ADCY9 gene in cardiac abnormalities of the Rubinstein-Taybi syndrome, Orphanet Journal of Rare Diseases

Ocular features in Rubinstein-Taybi syndrome: investigation of 24 patients and review of the literature

High frequency of copy number imbalances in Rubinstein–Taybi patients negative to CREBBP mutational analysis

CBP-HSF2 structural and functional interplay in Rubinstein-Taybi neurodevelopmental disorder

PDF] Rubinstein-Taybi Syndrome: A Case Report

Rubinstein‐Taybi syndrome in Chinese population with four novel mutations - Yu - 2021 - American Journal of Medical Genetics Part A - Wiley Online Library

PDF) New insights into genetic variant spectrum and genotype–phenotype correlations of Rubinstein‐Taybi syndrome in 39 CREBBP‐ positive patients
Rubinstein-Taybi Syndrome 1

Figure 3 from Rubinstein-Taybi Syndrome: A Case Report

Rubinstein-Taybi Syndrome: A Rare Case Report

4 Newborn with Rubinstein-Taybi syndrome showing microcephaly, frontal

Dermatologic Manifestations of Rubinstein-Taybi Syndrome Clinical Presentation: History, Physical Examination, Complications

Details of all reported patients with pilomatricomas and Rubinstein-Taybi syndrome.
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