Rubinstein-Taybi Syndrome OMIM# 180849 - FDNA™
Por um escritor misterioso
Last updated 02 abril 2025


Rubinstein–Taybi syndrome - Wikipedia

Rubinstein Syndrome - an overview

Rubinstein-Taybi syndrome in a Saudi boy with distinct features

CBP-HSF2 structural and functional interplay in Rubinstein-Taybi

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CBP-HSF2 structural and functional interplay in Rubinstein-Taybi

PDF) FISH studies in 45 patients with Rubinstein-Taybi syndrome

Rubinstein-Taybi syndrome: MedlinePlus Genetics

First case of Rubinstein–Taybi syndrome with desquamation

Rubinstein-Taybi Syndrome OMIM# 180849 - FDNA™

PDF) FISH studies in 45 patients with Rubinstein-Taybi syndrome

Clinical exome sequencing identifies novel CREBBP variants in 18

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Ocular symptoms in patients with Rubinstein-Taybi syndrome; 117 out of02 abril 2025
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Characterization of 14 novel deletions underlying Rubinstein–Taybi syndrome: an update of the CREBBP deletion repertoire02 abril 2025
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Chromosome 16p13.3 Contiguous Gene Deletion Syndrome including the SLX4, DNASE1, TRAP1, and CREBBP Genes Presenting as a Relatively Mild Rubinstein- Taybi Syndrome Phenotype: A Case Report of a Saudi Boy. - Document02 abril 2025
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Case report: a Chinese girl like atypical Rubinstein–Taybi syndrome caused by a novel heterozygous mutation of the EP300 gene, BMC Medical Genomics02 abril 2025
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Two adults with Rubinstein–Taybi syndrome with mild mental retardation, glaucoma, normal growth and skull circumference, and camptodactyly of third fingers - Wieczorek - 2009 - American Journal of Medical Genetics Part A02 abril 2025
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Rubinstein-Taybi 2 associated to novel EP300 mutations: deepening the clinical and genetic spectrum, BMC Medical Genetics02 abril 2025
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Ultra-Rare Syndromes: The Example of Rubinstein-Taybi Syndrome. - Abstract - Europe PMC02 abril 2025
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