Characterization of 14 novel deletions underlying Rubinstein–Taybi syndrome: an update of the CREBBP deletion repertoire
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Characterization of 14 novel deletions underlying Rubinstein–Taybi syndrome: an update of the CREBBP deletion repertoire
PDF) Identification of a novel de novo mutation of CREBBP in a patient with Rubinstein-Taybi syndrome by targeted next-generation sequencing: A case report
Chromosome 16p13.3 Deletion Syndrome, Proximal disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials
PDF] Genetic heterogeneity in Rubinstein-Taybi syndrome: mutations in both the CBP and EP300 genes cause disease.
Characterization of 14 novel deletions underlying Rubinstein–Taybi syndrome: an update of the CREBBP deletion repertoire
Benign and malignant tumors in Rubinstein–Taybi syndrome - Boot - 2018 - American Journal of Medical Genetics Part A - Wiley Online Library
Rubinstein-Taybi Syndrome and Epigenetic Alterations. - Abstract - Europe PMC
PDF) New dysmorphic features in Rubinstein-Taybi syndrome
Identification of a novel de novo mutation of CREBBP in a patient with Rubinstein-Taybi syndrome by targeted next-generation sequencing: a case report - ScienceDirect
A) Location of the exon CREBBP mutations found in this study. Only
PDF) Rubinstein-Taybi Syndrome: A Model of Epigenetic Disorder
Rubinstein-Taybi syndrome: MedlinePlus Genetics
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