Genetic heterogeneity in Rubinstein–Taybi syndrome: delineation of the phenotype of the first patients carrying mutations in EP300
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High frequency of copy number imbalances in Rubinstein–Taybi patients negative to CREBBP mutational analysis
From Whole Gene Deletion to Point Mutations of EP300‐Positive Rubinstein–Taybi Patients: New Insights into the Mutational Spectrum and Peculiar Clinical Hallmarks - Negri - 2016 - Human Mutation - Wiley Online Library
Exome Sequencing Identification of EP300 Mutation in a Proband with Coloboma and Imperforate Anus: Possible Expansion of the Phenotypic Spectrum of Rubinstein-Taybi Syndrome
PDF] Genetic heterogeneity in Rubinstein-Taybi syndrome: mutations in both the CBP and EP300 genes cause disease.
A novel mutation c.4003 G>C in the CREBBP gene in an adult female with Rubinstein–Taybi syndrome presenting with subtle dysmorphic features - Li - 2010 - American Journal of Medical Genetics Part
Case report: a Chinese girl like atypical Rubinstein–Taybi syndrome caused by a novel heterozygous mutation of the EP300 gene, BMC Medical Genomics
Genes, Free Full-Text
Expanding the phenotypic spectrum in EP300‐related Rubinstein–Taybi syndrome - Solomon - 2015 - American Journal of Medical Genetics Part A - Wiley Online Library
Epigenetic mechanisms of Rubinstein-Taybi syndrome. - Abstract - Europe PMC
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