Genetic heterogeneity in Rubinstein–Taybi syndrome: delineation of
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Last updated 28 março 2025


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Epigenetic mechanisms of Rubinstein-Taybi syndrome. - Abstract - Europe PMC

PDF) Epigenetic Mechanisms of Rubinstein–Taybi Syndrome

Facial dysmorphism, skeletal anomalies, congenital glucoma, dysplastic nails: Mild Rubinstein-Taybi Syndrome - ScienceDirect

Case report: a Chinese girl like atypical Rubinstein–Taybi syndrome caused by a novel heterozygous mutation of the EP300 gene, BMC Medical Genomics

PDF] Facial dysmorphism, skeletal anomalies, congenital glucoma, dysplastic nails: Mild Rubinstein-Taybi Syndrome

Ultra-Rare Syndromes: The Example of Rubinstein-Taybi Syndrome. - Abstract - Europe PMC

Facial dysmorphism, skeletal anomalies, congenital glucoma, dysplastic nails: Mild Rubinstein-Taybi Syndrome - ScienceDirect

PDF) CREBBP and EP300 mutational spectrum and clinical presentations in a cohort of Swedish patients with Rubinstein–Taybi syndrome

Rubinstein-Taybi Syndrome

Rubinstein–Taybi syndrome in diverse populations - Tekendo‐Ngongang - 2020 - American Journal of Medical Genetics Part A - Wiley Online Library

Further delineation of an entity caused by CREBBP and EP300 mutations but not resembling Rubinstein–Taybi syndrome - Menke - 2018 - American Journal of Medical Genetics Part A - Wiley Online Library

Mosaic CREBBP mutation causes overlapping clinical features of Rubinstein– Taybi and Filippi syndromes

Figure 3 from Rubinstein-Taybi Syndrome: A Female Patient with a De Novo Reciprocal Translocation T(2; 16)(Q36.3; P13.3) and Dysgranulopoiesis

Prediction of an RTI deletion using selected Rubinstein-Taybi syndrome
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