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
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Last updated 17 novembro 2024
PDF) First case report of inherited Rubinstein-Taybi syndrome associated with a novel EP300 variant
Rubinstein-Taybi Syndrome and Epigenetic Alterations. - Abstract - Europe PMC
Downregulating CREBBP inhibits proliferation and cell cycle progression and induces daunorubicin resistance in leukemia cells
A Novel CREBBP in-Frame Deletion Variant in a Chinese Girl with Atypical Rubinstein–Taybi Syndrome Phenotypes
Frontiers Genetic Diagnosis of Rubinstein–Taybi Syndrome With Multiplex Ligation-Dependent Probe Amplification (MLPA) and Whole-Exome Sequencing (WES): Case Series With a Novel CREBBP Variant
PDF) New dysmorphic features in Rubinstein-Taybi syndrome
Rubinstein-Taybi Syndrome
Candidate Genes for Nonsyndromic Cleft Palate Detected by Exome Sequencing - A.K. Hoebel, D. Drichel, M. van de Vorst, A.C. Böhmer, S. Sivalingam, N. Ishorst, J. Klamt, L. Gölz, M. Alblas, A.
Frontiers Genetic Diagnosis of Rubinstein–Taybi Syndrome With Multiplex Ligation-Dependent Probe Amplification (MLPA) and Whole-Exome Sequencing (WES): Case Series With a Novel CREBBP Variant
Rubinstein-Taybi Syndrome and Epigenetic Alterations. - Abstract - Europe PMC
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