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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
Clinical photos of the patients. (a) Case 1: Dysmorphic facial features
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
CBP-HSF2 structural and functional interplay in Rubinstein-Taybi neurodevelopmental disorder
Ultra-Rare Syndromes: The Example of Rubinstein-Taybi Syndrome
A novel CREBBP mutation and its phenotype in a case of Rubinstein–Taybi syndrome, BMC Medical Genomics
Ultra-Rare Syndromes: The Example of Rubinstein-Taybi Syndrome
Genes, Free Full-Text
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 - Wikipedia
Ultra-Rare Syndromes: The Example of Rubinstein-Taybi Syndrome
Details of all reported patients with pilomatricomas and Rubinstein-Taybi syndrome.
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
CBP-HSF2 structural and functional interplay in Rubinstein-Taybi neurodevelopmental disorder
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
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
Forgotten Diseases Research Foundation
Ultra-Rare Syndromes: The Example of Rubinstein-Taybi Syndrome
Dermatologic Manifestations of Rubinstein-Taybi Syndrome Clinical Presentation: History, Physical Examination, Complications
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