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

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PDF) CREBBP and EP300 mutational spectrum and clinical presentations in a cohort of Swedish patients with Rubinstein–Taybi syndrome
Genes, Free Full-Text
PDF) CREBBP and EP300 mutational spectrum and clinical presentations in a cohort of Swedish patients with Rubinstein–Taybi syndrome
Genes, Free Full-Text
PDF) CREBBP and EP300 mutational spectrum and clinical presentations in a cohort of Swedish patients with Rubinstein–Taybi syndrome
Rubinstein-Taybi Syndrome: Clinical and Genetic Analyses of One Case and Literature Review
PDF) CREBBP and EP300 mutational spectrum and clinical presentations in a cohort of Swedish patients with Rubinstein–Taybi syndrome
De novo variation in EP300 gene cause Rubinstein-Taybi syndrome 2 in a Chinese family with severe early-onset high myopia, BMC Medical Genomics
PDF) CREBBP and EP300 mutational spectrum and clinical presentations in a cohort of Swedish patients with Rubinstein–Taybi syndrome
Mosaic CREBBP mutation causes overlapping clinical features of Rubinstein– Taybi and Filippi syndromes
PDF) CREBBP and EP300 mutational spectrum and clinical presentations in a cohort of Swedish patients with Rubinstein–Taybi syndrome
Rubinstein-Taybi Syndrome - an overview
PDF) CREBBP and EP300 mutational spectrum and clinical presentations in a cohort of Swedish patients with Rubinstein–Taybi syndrome
Characterization of 14 novel deletions underlying Rubinstein–Taybi syndrome: an update of the CREBBP deletion repertoire
PDF) CREBBP and EP300 mutational spectrum and clinical presentations in a cohort of Swedish patients with Rubinstein–Taybi syndrome
PDF) Rubinstein–Taybi syndrome (CREBBP, EP300) Martine van Belzen and Oliver Bartsch
PDF) CREBBP and EP300 mutational spectrum and clinical presentations in a cohort of Swedish patients with Rubinstein–Taybi syndrome
PDF) CREBBP and EP300 mutational spectrum and clinical presentations in a cohort of Swedish patients with Rubinstein–Taybi syndrome
PDF) CREBBP and EP300 mutational spectrum and clinical presentations in a cohort of Swedish patients with Rubinstein–Taybi syndrome
First case report of inherited Rubinstein-Taybi syndrome associated with a novel EP300 variant – topic of research paper in Clinical medicine. Download scholarly article PDF and read for free on CyberLeninka open
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