Genetic heterogeneity in Rubinstein–Taybi syndrome: delineation of the phenotype of the first patients carrying mutations in EP300
Por um escritor misterioso
Last updated 21 fevereiro 2025
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Two patients with EP300 mutations and facial dysmorphism different from the classic Rubinstein–Taybi syndrome - Bartsch - 2010 - American Journal of Medical Genetics Part A - Wiley Online Library
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High frequency of copy number imbalances in Rubinstein–Taybi patients negative to CREBBP mutational analysis
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Skeletal findings of patients carrying mutations of the EP300 gene
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PDF] Rubinstein-Taybi Syndrome: A Female Patient with a De Novo Reciprocal Translocation T(2; 16)(Q36.3; P13.3) and Dysgranulopoiesis
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PDF) Rubinstein-Taybi syndrome: Clinical features, genetic basis, diagnosis, and management
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PDF) First case report of inherited Rubinstein-Taybi syndrome associated with a novel EP300 variant
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Rubinstein–Taybi syndrome: clinical and molecular overview, Expert Reviews in Molecular Medicine
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Rubinstein–Taybi syndrome in diverse populations - Tekendo‐Ngongang - 2020 - American Journal of Medical Genetics Part A - Wiley Online Library
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Rubinstein-Taybi Syndrome
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High frequency of copy number imbalances in Rubinstein–Taybi patients negative to CREBBP mutational analysis
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