Casarubinstein taybi omim

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

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Last updated 22 novembro 2024
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) Neurological Manifestations of Rubinstein-Taybi syndrome: A Case Report
PDF) CREBBP and EP300 mutational spectrum and clinical presentations in a cohort of Swedish patients with Rubinstein–Taybi syndrome
Frontiers Behavioral and neuropsychiatric challenges across the lifespan in individuals 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, BMC Medical Genetics
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
Microdeletions and mutations of CREBBP (CBP) gene can cause
PDF) CREBBP and EP300 mutational spectrum and clinical presentations in a cohort of Swedish patients with Rubinstein–Taybi syndrome
A Novel CREBBP in-Frame Deletion Variant in a Chinese Girl with Atypical Rubinstein–Taybi Syndrome Phenotypes
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
PDF) CREBBP and EP300 mutational spectrum and clinical presentations in a cohort of Swedish patients with Rubinstein–Taybi syndrome
Rubinstein-Taybi Syndrome and Epigenetic Alterations. - Abstract - Europe PMC
PDF) CREBBP and EP300 mutational spectrum and clinical presentations in a cohort of Swedish patients with Rubinstein–Taybi syndrome
Frontiers Behavioral and neuropsychiatric challenges across the lifespan in individuals with Rubinstein-Taybi syndrome
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
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